Detalhe da pesquisa
1.
Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome.
Am J Med Genet A
; 191(11): 2757-2767, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37596828
2.
Autism services in low-resource areas.
Neurosciences (Riyadh)
; 28(2): 116-122, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37045462
3.
Post SARS-CoV-2 Guillain-Barré syndrome in a child: case report and review of the literature.
Childs Nerv Syst
; 38(10): 2011-2016, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35461356
4.
Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder.
Genet Med
; 23(7): 1246-1254, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33824500
5.
Could vagus nerve stimulation influence bone remodeling?
J Musculoskelet Neuronal Interact
; 21(2): 255-262, 2021 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34059570
6.
Frequency of antiepileptic drugs and response change in pediatric patients receiving 2 or more antiepileptic drugs.
Neurosciences (Riyadh)
; 25(4): 269-275, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-33130807
7.
Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy.
Am J Hum Genet
; 99(6): 1368-1376, 2016 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27889060
8.
Hypoxia-reoxygenation enhances murine afferent arteriolar vasoconstriction by angiotensin II.
Am J Physiol Renal Physiol
; 314(3): F430-F438, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29070570
9.
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.
Am J Hum Genet
; 97(3): 483-92, 2015 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26320891
10.
Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders.
Genome Res
; 25(7): 948-57, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25917818
11.
Predictors of nonadherence in children and adolescents with epilepsy: A multimethod assessment approach.
Epilepsy Behav
; 85: 205-211, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30032809
12.
Recurrent meningitis in children: etiologies, outcome, and lessons to learn.
Childs Nerv Syst
; 34(8): 1541-1547, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29728757
13.
Type and etiology of pediatric epilepsy in Jordan. A multi-center study.
Neurosciences (Riyadh)
; 22(4): 267-273, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29057851
14.
Patterns of antiepileptic drugs use in epileptic pediatric patients in Jordan.
Neurosciences (Riyadh)
; 21(3): 264-7, 2016 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-27356661
15.
Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach.
Neurogenetics
; 16(1): 33-42, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25231362
16.
GLRB is the third major gene of effect in hyperekplexia.
Hum Mol Genet
; 22(5): 927-40, 2013 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23184146
17.
Dandy-Walker malformation, genitourinary abnormalities, and intellectual disability in two families.
Am J Med Genet A
; 167A(11): 2503-2507, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26109232
18.
Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families.
Hum Mutat
; 35(10): 1203-10, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25044680
19.
New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.
J Biol Chem
; 288(47): 33745-33759, 2013 Nov 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-24108130
20.
Microarray delineation of familial chromosomal imbalance with deletion 5q35 and duplication 10q25 in a child showing multiple anomalies and dysmorphism.
Am J Med Genet A
; 164A(5): 1254-61, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24478242