Detalles de la búsqueda
1.
Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency.
Hum Mol Genet
; 31(18): 3083-3094, 2022 09 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-35512351
2.
Expansion of the clinical and molecular spectrum of WWOX-related epileptic encephalopathy.
Am J Med Genet A
; 191(3): 776-785, 2023 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-36537114
3.
Aromatic L-amino acid decarboxylase deficiency in countries in the Middle East: a case series and literature review.
Eur J Pediatr
; 182(6): 2535-2545, 2023 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-36928758
4.
VPS26C homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features.
Clin Genet
; 97(4): 644-648, 2020 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-31845315
5.
Homozygous loss-of-function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies.
Hum Mutat
; 40(11): 1985-1992, 2019 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-31209944
6.
Correction to: Expanding the genetic heterogeneity of intellectual disability.
Hum Genet
; 137(1): 105-109, 2018 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29288388
7.
Mitochondrial dynamics: Biological roles, molecular machinery, and related diseases.
Mol Genet Metab
; 125(4): 315-321, 2018 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-30361041
8.
Compound heterozygous variants in the multiple PDZ domain protein (MPDZ) cause a case of mild non-progressive communicating hydrocephalus.
BMC Med Genet
; 19(1): 34, 2018 03 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-29499638
9.
B3GALNT2-Related Dystroglycanopathy: Expansion of the Phenotype with Novel Mutation Associated with Muscle-Eye-Brain Disease, Walker-Warburg Syndrome, Epileptic Encephalopathy-West Syndrome, and Sensorineural Hearing Loss.
Neuropediatrics
; 49(4): 289-295, 2018 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-29791932
10.
Correction to: Aromatic L-amino acid decarboxylase deficiency in countries in the Middle East: a case series and literature review.
Eur J Pediatr
; 182(6): 2547-2548, 2023 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-37140704
11.
Expanding the genetic heterogeneity of intellectual disability.
Hum Genet
; 136(11-12): 1419-1429, 2017 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-28940097
12.
17q23.2q23.3 de novo duplication in association with speech and language disorder, learning difficulties, incoordination, motor skill impairment, and behavioral disturbances: a case report.
BMC Med Genet
; 18(1): 119, 2017 10 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-29070031
13.
The recognition and treatment of autoimmune epilepsy in children.
Dev Med Child Neurol
; 57(5): 431-40, 2015 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-25483277
14.
Autoimmune epilepsy in children: case series and proposed guidelines for identification.
Epilepsia
; 54(6): 1036-45, 2013 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-23551014
15.
Autoantibodies to neuronal antigens in children with new-onset seizures classified according to the revised ILAE organization of seizures and epilepsies.
Epilepsia
; 54(12): 2091-100, 2013 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-24151870
16.
Case report: First case report of an Emirati child with a novel gene variant causing aromatic L-amino acid decarboxylase deficiency.
Front Pediatr
; 10: 964201, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36110109
17.
Clinical and molecular delineation of dysequilibrium syndrome type 2 and profound sensorineural hearing loss in an inbred Arab family.
Am J Med Genet A
; 170A(2): 540-543, 2016 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-26437881
18.
Immune-mediated steroid-responsive epileptic spasms and epileptic encephalopathy associated with VGKC-complex antibodies.
Dev Med Child Neurol
; 53(11): 1058-60, 2011 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-21883173
19.
ATP13A2 novel mutations causing a rare form of juvenile-onset Parkinson disease.
Brain Dev
; 40(9): 824-826, 2018 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-29903538
20.
West syndrome, developmental and epileptic encephalopathy, and severe CNS disorder associated with WWOX mutations.
Epileptic Disord
; 20(5): 401-412, 2018 Oct 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30361190