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1.
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Am J Hum Genet
; 111(1): 200-210, 2024 Jan 04.
Article
in English
| MEDLINE | ID: mdl-38118446
2.
TMEM161B modulates radial glial scaffolding in neocortical development.
Proc Natl Acad Sci U S A
; 120(4): e2209983120, 2023 01 24.
Article
in English
| MEDLINE | ID: mdl-36669109
3.
The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children.
Clin Genet
; 105(5): 510-522, 2024 05.
Article
in English
| MEDLINE | ID: mdl-38221827
4.
Refining the phenotypic spectrum of CCDC88A-related PEHO-like syndrome.
Am J Med Genet A
; 194(2): 226-232, 2024 Feb.
Article
in English
| MEDLINE | ID: mdl-37798908
5.
Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.
Am J Hum Genet
; 107(5): 977-988, 2020 11 05.
Article
in English
| MEDLINE | ID: mdl-33058759
6.
Clinical and molecular spectrum of a large Egyptian cohort with ALS2-related disorders of infantile-onset of clinical continuum IAHSP/JPLS.
Clin Genet
; 104(2): 238-244, 2023 08.
Article
in English
| MEDLINE | ID: mdl-37055917
7.
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.
Acta Neuropathol
; 146(2): 353-368, 2023 08.
Article
in English
| MEDLINE | ID: mdl-37119330
8.
An atypical expression of core α-Dystroglycan and Laminin-α2 in skin fibroblasts of patients with congenital muscular dystrophies.
Mol Biol Rep
; 50(8): 6373-6379, 2023 Aug.
Article
in English
| MEDLINE | ID: mdl-37318662
9.
Thiamine Supplementation in Patients With Alcohol Use Disorder Presenting With Acute Critical Illness : A Nationwide Retrospective Observational Study.
Ann Intern Med
; 175(2): 191-197, 2022 Feb.
Article
in English
| MEDLINE | ID: mdl-34871057
10.
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.
EMBO J
; 37(23)2018 12 03.
Article
in English
| MEDLINE | ID: mdl-30420557
11.
Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy.
Am J Hum Genet
; 105(3): 534-548, 2019 09 05.
Article
in English
| MEDLINE | ID: mdl-31422819
12.
Performance of the APACHE II and SOFA Scores in Diabetic Ketoacidosis.
J Intensive Care Med
; 37(6): 715-720, 2022 Jun.
Article
in English
| MEDLINE | ID: mdl-34114500
13.
Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy.
J Med Genet
; 58(7): 495-504, 2021 07.
Article
in English
| MEDLINE | ID: mdl-32719099
14.
Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function.
Brain
; 143(4): 1114-1126, 2020 04 01.
Article
in English
| MEDLINE | ID: mdl-32293671
15.
A founder mutation in PEX12 among Egyptian patients in peroxisomal biogenesis disorder.
Neurol Sci
; 42(7): 2737-2745, 2021 Jul.
Article
in English
| MEDLINE | ID: mdl-33123925
16.
Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia.
Am J Hum Genet
; 101(3): 441-450, 2017 Sep 07.
Article
in English
| MEDLINE | ID: mdl-28823706
17.
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.
Am J Hum Genet
; 101(4): 552-563, 2017 Oct 05.
Article
in English
| MEDLINE | ID: mdl-28965847
18.
Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features.
Am J Hum Genet
; 100(4): 676-688, 2017 Apr 06.
Article
in English
| MEDLINE | ID: mdl-28343629
19.
Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights.
Clin Genet
; 98(5): 445-456, 2020 11.
Article
in English
| MEDLINE | ID: mdl-32740904
20.
ASAH1-related disorders: Description of 15 novel pediatric patients and expansion of the clinical phenotype.
Clin Genet
; 98(6): 598-605, 2020 12.
Article
in English
| MEDLINE | ID: mdl-32875576