Nome |
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Acquired peripheral neuropathy: a report on 20 children., file dfe4d227-4824-bb0a-e053-d805fe0a78d9
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981
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Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1, file 02143c5a-b5e5-4de9-8235-6e0f33ae6cb1
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948
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Congenital myasthenic syndromes: Clinical and molecular report on 7 Sicilian patients, file dfe4d22a-90ce-bb0a-e053-d805fe0a78d9
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880
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Neurofibromatosis type 2: Results of an Italian multi-center study on the clinical features of the disease in childhood and on response to treatment with bevacizumab, file efc5b03f-48b1-418e-9584-ec3c0f485e7c
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245
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The multiple faces of artwork diagnoses., file dfe4d22a-9c6b-bb0a-e053-d805fe0a78d9
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54
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Cognitive disabilities and bioethical implications in down syndrome, file dfe4d22e-17fb-bb0a-e053-d805fe0a78d9
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54
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Total Hemi-overgrowth in Pigmentary Mosaicism of the (Hypomelanosis of) Ito Type: Eight Case Reports, file dfe4d227-274c-bb0a-e053-d805fe0a78d9
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40
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Cervical neurenteric cyst and Klippel-Feil syndrome: An abrupt onset of myelopathic signs in a young patient, file dfe4d22c-8c71-bb0a-e053-d805fe0a78d9
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35
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Neuroaspergillosis as the Presenting Sign of a Chronic Granulomatous Disease, file dfe4d22b-a7b5-bb0a-e053-d805fe0a78d9
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28
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Clinical spectrum of woolly hair: Indications for cerebral involvement, file dfe4d22b-a791-bb0a-e053-d805fe0a78d9
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24
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COVID-19 Pandemic Outbreak and its Psychological Impact on Patients with Rare Lysosomal Diseases, file dfe4d22d-7ce7-bb0a-e053-d805fe0a78d9
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19
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Hemihydranencephaly: living with half brain dysfunction., file dfe4d227-936c-bb0a-e053-d805fe0a78d9
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18
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Giant melanocytic nevi and soft tissue undergrowth in the left leg: Pathogenetic hypothesis, file dfe4d22b-a7b6-bb0a-e053-d805fe0a78d9
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17
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Sprengel deformity: a rare congenital anomaly of the scapula, file dfe4d22c-0ad1-bb0a-e053-d805fe0a78d9
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16
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Is benign familial neonatal KCNQ2-related epilepsy always familially benign? J pediatric neonatal individualized medicine, file dfe4d229-b265-bb0a-e053-d805fe0a78d9
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15
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Isolated liver disease in a patient with a CFTR genotype F508del/12TG-5T and 470MV: A new face of an old disease, file dfe4d22b-bef0-bb0a-e053-d805fe0a78d9
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15
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Hydranencephaly: cerebral spinal fluid instead of cerebral mantles, file dfe4d227-03ad-bb0a-e053-d805fe0a78d9
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13
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Ataxia in children: early recognition and clinical evaluation., file dfe4d227-2850-bb0a-e053-d805fe0a78d9
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13
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Unilateral Eye Blinking Arising From the Ictal Ipsilateral Occipital Area, file dfe4d227-324e-bb0a-e053-d805fe0a78d9
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13
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Congenital muscular dystrophy: from muscle to brain, file dfe4d227-1824-bb0a-e053-d805fe0a78d9
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12
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In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS), file dfe4d22c-ebb8-bb0a-e053-d805fe0a78d9
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12
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A clinical review on megalencephaly: A large brain as a possible sign of cerebral impairment, file dfe4d22b-9bd3-bb0a-e053-d805fe0a78d9
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11
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Hepatitis B vaccine in celiac disease: yesterday, today and tomorrow., file dfe4d227-434a-bb0a-e053-d805fe0a78d9
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10
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Childhood neurofibromatosis type 2 (NF2) and related disorders: From bench to bedside and biologically targeted therapies [Neurofibromatosi tipo 2 (NF2) e sindromi correlate in età infantile: dalla biologia molecolare alla pratica clinica e nuove terapie con farmaci biologici], file dfe4d229-15f3-bb0a-e053-d805fe0a78d9
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10
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Hyperprolinemia type IA: benign metabolic anomaly or a trigger for brain dysfunction?, file dfe4d22b-9a2c-bb0a-e053-d805fe0a78d9
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10
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Hypoglossal nerve paralysis in a child after a dental procedure, file dfe4d22c-e62f-bb0a-e053-d805fe0a78d9
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10
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Did Cro-Magnon 1 have neurofibromatosis type 2?, file dfe4d229-a07e-bb0a-e053-d805fe0a78d9
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9
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Malformazioni vascolari nella neurofibromatosi di tipo 1 (NF1), file dfe4d229-dd63-bb0a-e053-d805fe0a78d9
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9
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Ptosis in childhood: A clinical sign of several disorders: Case series reports and literature review, file dfe4d22b-a365-bb0a-e053-d805fe0a78d9
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9
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Genotype-phenotype variable correlation in Wilson disease: clinical history of two sisters with the similar genotype, file dfe4d22c-8e80-bb0a-e053-d805fe0a78d9
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8
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Graph theory in paediatric epilepsy: A systematic review, file 25fcb235-ab6e-4071-ab5a-cf6fbee6c10e
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7
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Erratum: Total Hemi-overgrowth in Pigmentary Mosaicism of the (Hypomelanosis of) Ito Type: Eight Case Reports (Medicine 95:10 (e2705)) (2016) Medicine (United States), 95 (15), file dfe4d22a-ad19-bb0a-e053-d805fe0a78d9
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7
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Propranolol: effectiveness and failure in infantile cutaneous haemangiomas, file dfe4d22b-54c3-bb0a-e053-d805fe0a78d9
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7
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Reconstructive Surgery in Children with Down's Syndrome: Bioethical Implications, file dfe4d22b-f4e6-bb0a-e053-d805fe0a78d9
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7
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Congenital generalized hypertrichosis: the skin as a clue to complex malformation
Syndromes., file dfe4d22c-f66a-bb0a-e053-d805fe0a78d9
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7
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Anti-mog associated encephalitis: when steroid therapy is not enough, file 52555006-2dc8-4986-9d93-fe7488770c5a
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6
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Chromosome 15q BP3 to BP5 deletion is a likely locus for speech delay and language impairment: Report on a four-member family and an unrelated boy, file b9f808d4-7708-4104-a641-403dc055c43a
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6
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Early acute pancreatitis in a child with compound heterozygosis ∆F508/R1438W/Y1032C cystic fibrosis: a case report., file dfe4d227-1d3f-bb0a-e053-d805fe0a78d9
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6
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Type II Autoimmune hepatitis and small duct sclerosing cholangitis in a seven years old child: an overlap syndrome?, file dfe4d227-2c6e-bb0a-e053-d805fe0a78d9
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6
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Case report: A gain-of-function of hamartin may lead to a distinct "inverse TSC1-hamartin" phenotype characterized by reduced cell growth, file 1b2e856c-3a9e-47df-81ba-8b5557ea5448
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5
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Efficacy of the anti-seizure medications in acute symptomatic neonatal seizures caused by stroke. A systematic review, file 94def76d-7917-4091-a17f-460d85427ed1
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5
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A girl with a 14.7 Mb 3q26.32-q28 duplication: a new report of 3q duplication syndrome and a literature review, file c39ad75c-96af-40fb-b581-c6f32b681cf8
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5
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Intramuscular versus intradermal route for hepatitis B booster vaccine in celiac children., file dfe4d227-425e-bb0a-e053-d805fe0a78d9
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5
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West syndrome treatment: new roads for an old syndrome., file dfe4d22a-ef6c-bb0a-e053-d805fe0a78d9
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4
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Treatment of lumbar and intrathoracic meningocele: Bioethical implications, file 90469861-fb19-4509-987b-dba18c4ba98a
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3
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Voluntary selective big toe dorsal flection: pseudo-Babinski phenomenon?, file dfe4d226-f8d2-bb0a-e053-d805fe0a78d9
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3
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Two siblings with a homozygous MTHFR C677T (G80A-RFC1) mutation and stroke, file dfe4d226-fb22-bb0a-e053-d805fe0a78d9
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3
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Recurrent obstructive hydrocephalus in a 4-month-old infant, file dfe4d226-fdb7-bb0a-e053-d805fe0a78d9
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3
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Microcephaly associated with Legg-Calvè-Perthes disease in two siblings, file dfe4d227-06cc-bb0a-e053-d805fe0a78d9
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3
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Wide spectrum of congenital anomalies including choanal atresia, malformed extremities, and brain and spinal malformations in a girl with a de novo 5.6-Mb deletion of 13q12.11-13q12.13, file dfe4d227-2479-bb0a-e053-d805fe0a78d9
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3
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La Tosse, file dfe4d227-4e1d-bb0a-e053-d805fe0a78d9
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3
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Symptomatic hypocalcemia in an epileptic child treated with valproic acid plus lamotrigine: a case report, file dfe4d227-93f2-bb0a-e053-d805fe0a78d9
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3
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Early history of neurofibromatosis type 2 and related forms: earliest descriptions of acoustic neuromas, medical curiosities, misconceptions, landmarks and the pioneers behind the eponyms, file dfe4d229-157a-bb0a-e053-d805fe0a78d9
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3
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Correlazione genotipo/fenotipo nella Sclerosi Tuberosa (TSC1 vs. TSC2) in 81 pazienti siciliani, file dfe4d229-dd62-bb0a-e053-d805fe0a78d9
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3
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A Probable Topiramate-induced Limbs Paraesthesia and Rigid Fingers Flexion, file dfe4d22e-4a63-bb0a-e053-d805fe0a78d9
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3
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Tetralogy of Fallot variant with pulmonary atresia (pseudotruncus arteriosus) in a case of maternal PKU syndrome, file dfe4d22e-a6de-bb0a-e053-d805fe0a78d9
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3
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Neonatal seizures as onset of Inborn Errors of Metabolism (IEMs): from diagnosis to treatment. A systematic review, file 1123d790-c97a-453d-b40e-e5d8f2b137e0
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2
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Rediagnosing one of Smith's patients (John McCann) with "neuromas tumours" (1849)., file dfe4d226-f70f-bb0a-e053-d805fe0a78d9
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2
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Mycoplasma pneumoniae: dalla polmonite atipica primaria alle complicanze extrapolmonari, file dfe4d227-0315-bb0a-e053-d805fe0a78d9
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2
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Telangiectasia Macularis Eruptive Perstans (TMEP) in childhood: a case report and literature review", file dfe4d227-10be-bb0a-e053-d805fe0a78d9
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2
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Ganglioneuroblastoma-associated vitamin D deficiency rickets, file dfe4d227-19c8-bb0a-e053-d805fe0a78d9
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2
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Wyburn-Mason Syndrome, file dfe4d229-8432-bb0a-e053-d805fe0a78d9
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2
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Blue Rubber Bleb Nevus Syndrome, file dfe4d229-8494-bb0a-e053-d805fe0a78d9
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2
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Mixed Vascular Nevus Syndrome, file dfe4d229-88e7-bb0a-e053-d805fe0a78d9
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2
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Nevus Sebaceous Syndrome, file dfe4d229-8b7b-bb0a-e053-d805fe0a78d9
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2
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Microcephaly-Capillary Malformation Syndrome, file dfe4d229-8b7d-bb0a-e053-d805fe0a78d9
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2
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Encephalocraniocutaneous Lipomatosis (Haberland Syndrome or Fishman Syndrome), file dfe4d229-8c2f-bb0a-e053-d805fe0a78d9
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2
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Becker's Nevus Syndrome, file dfe4d22a-7851-bb0a-e053-d805fe0a78d9
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2
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Prognostic challenges of SCN1A genetic mutations: report of two children with
mild features, file dfe4d22a-c1f1-bb0a-e053-d805fe0a78d9
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2
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Sindromi Neurocutanee, file dfe4d22b-5d40-bb0a-e053-d805fe0a78d9
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2
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COVID-19 vaccination for children: may be necessary for the full eradication of the disease, file a188f0cd-322e-475e-817f-f42866fd8817
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1
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Immunotherapy: a new horizon for egg allergy?, file dfe4d227-0230-bb0a-e053-d805fe0a78d9
|
1
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Spine and brain malformations in a patient obligate carrier of MTHFR with autism and mental retardation, file dfe4d227-06cd-bb0a-e053-d805fe0a78d9
|
1
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Neurofibromatosis type 1 and infantile spasms, file dfe4d227-11d9-bb0a-e053-d805fe0a78d9
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1
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An 11-year follow-up of neonatal onset bath-induced alternating hemiplegia of childhood in monozygotic twins, file dfe4d227-2772-bb0a-e053-d805fe0a78d9
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1
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Immunotherapy for food allergies: a myth or a reality?, file dfe4d227-2d94-bb0a-e053-d805fe0a78d9
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1
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Infantile spasms in the setting of Sturge-Weber syndrome, file dfe4d227-38d5-bb0a-e053-d805fe0a78d9
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1
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Biochemical Insights into Merlin/NF2 Pathophysiology and Biologically Targeted Therapies in Childhood NF2 and Related Forms, file dfe4d227-7f16-bb0a-e053-d805fe0a78d9
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1
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A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas, file dfe4d229-1759-bb0a-e053-d805fe0a78d9
|
1
|
Hypomelanosis of Ito, file dfe4d229-88e5-bb0a-e053-d805fe0a78d9
|
1
|
Cerebellotrigeminal Dermal Dysplasia (Gómez-López-Hernández Syndrome), file dfe4d229-8b76-bb0a-e053-d805fe0a78d9
|
1
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Phacomatosis Pigmentovascularis, file dfe4d229-8b79-bb0a-e053-d805fe0a78d9
|
1
|
Phacomatosis Pigmentokeratotica, file dfe4d229-8c2d-bb0a-e053-d805fe0a78d9
|
1
|
Multiseptate Gallbladder in a Child: A Possible Cause of Poor Growth?, file dfe4d229-9c8d-bb0a-e053-d805fe0a78d9
|
1
|
Eczema herpeticum in a patient with atopic dermatitis, coxsackie B virus, and staphylococcal infection: A double skin damage, file dfe4d229-a3e3-bb0a-e053-d805fe0a78d9
|
1
|
Encefalite da Anticorpi anti-GluR3 in sei pazienti in età pediatrica, file dfe4d229-d21f-bb0a-e053-d805fe0a78d9
|
1
|
Sindrome del vomito ciclico: analisi di una popolazione di 20 bambini e revisione della letteratura, file dfe4d229-d220-bb0a-e053-d805fe0a78d9
|
1
|
Encefalomielite acuta demielinizzante ricorrente: dalla clinica alla diagnosi., file dfe4d229-d223-bb0a-e053-d805fe0a78d9
|
1
|
Encefalite GluR3: fenotipo clinico e strumentale di quattro pazienti, file dfe4d229-dd66-bb0a-e053-d805fe0a78d9
|
1
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Mutazione PRRT2 in un bambino con caratteristiche dismorfiche, microcefalia congenita e convulsioni epilettiche gravi, file dfe4d229-dd67-bb0a-e053-d805fe0a78d9
|
1
|
E se non fossero solo incubi notturni?, file dfe4d229-dd6a-bb0a-e053-d805fe0a78d9
|
1
|
Encefalopatia acuta da probabile deficit cerebrale di acido folico in paziente con iperfenilalaninemia da deficit di DHPR, file dfe4d229-de20-bb0a-e053-d805fe0a78d9
|
1
|
Disturbi del sonno: uno studio prospettico pilota basato sulla somministrazione di questionario online., file dfe4d229-de22-bb0a-e053-d805fe0a78d9
|
1
|
Diagnosis, management and new therapeutic options in childhood neurofibromatosis type 2 and related disorders, file dfe4d22a-7d69-bb0a-e053-d805fe0a78d9
|
1
|
Holoprosencephaly and Recurrent Episodes of Severe Neurogenic Hypernatremia, file dfe4d22a-a50d-bb0a-e053-d805fe0a78d9
|
1
|
Autoimmune hepatitis: clinical findings in six pediatric patients., file dfe4d22b-6275-bb0a-e053-d805fe0a78d9
|
1
|
Previously Unreported COL7A1 Mutation in a Somali Patient with Dystrophic Epidermolysis Bullosa, file dfe4d22b-9e2f-bb0a-e053-d805fe0a78d9
|
1
|
Resuming the obsolete term "small head": when microcephaly occurs without cognitive impairment, file dfe4d22c-d568-bb0a-e053-d805fe0a78d9
|
1
|
Chromosome 2p15-p16.1 microduplication in a boy with congenital anomalies: Is it a distinctive syndrome?, file dfe4d22c-f661-bb0a-e053-d805fe0a78d9
|
1
|
A child with rhombencephalosynapsis, agenesis of the trigeminal ganglion and optic coloboma (without alopecia): A variant of the cerebellotrigeminal dermal dysplasia?, file dfe4d22d-ac79-bb0a-e053-d805fe0a78d9
|
1
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Totale |
3.715 |