Detalhe da pesquisa
1.
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder.
Am J Hum Genet
; 109(4): 587-600, 2022 04 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35196516
2.
Genetic Causes, Clinical Features, and Survival of Underlying Inborn Errors of Immunity in Omani Patients: a Single-Center Study.
J Clin Immunol
; 43(2): 452-465, 2023 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36324046
3.
Inactivation of DRG1, encoding a translation factor GTPase, causes a recessive neurodevelopmental disorder.
Genet Med
; 25(9): 100893, 2023 09.
Artigo
Inglês
| MEDLINE | ID: mdl-37179472
4.
TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia.
Brain
; 145(9): 3095-3107, 2022 09 14.
Artigo
Inglês
| MEDLINE | ID: mdl-35718349
5.
Domino liver transplantation for maple syrup urine disease in children: A single-center case series.
Pediatr Transplant
; 27(8): e14603, 2023 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-37658594
6.
Further phenotypic delineation of Alazami syndrome.
Am J Med Genet A
; 188(8): 2485-2490, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-35567578
7.
Mitochondrial RNA processing defect caused by a SUPV3L1 mutation in two siblings with a novel neurodegenerative syndrome.
J Inherit Metab Dis
; 45(2): 292-307, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-35023579
8.
Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects.
Hum Genet
; 140(8): 1143-1156, 2021 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-33974130
9.
CNP deficiency causes severe hypomyelinating leukodystrophy in humans.
Hum Genet
; 139(5): 615-622, 2020 May.
Artigo
Inglês
| MEDLINE | ID: mdl-32128616
10.
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.
Acta Neuropathol
; 139(3): 415-442, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31820119
11.
Correction to: Expanding the genetic heterogeneity of intellectual disability.
Hum Genet
; 137(1): 105-109, 2018 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29288388
12.
Reanalysis of exome sequencing data of intellectual disability samples: Yields and benefits.
Clin Genet
; 94(6): 495-501, 2018 12.
Artigo
Inglês
| MEDLINE | ID: mdl-30125339
13.
A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis.
Brain
; 140(3): 547-554, 2017 03 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28052917
14.
Inborn errors of metabolism in a cohort of pregnancies with non-immune hydrops fetalis: a single center experience.
J Perinat Med
; 46(9): 968-974, 2018 Nov 27.
Artigo
Inglês
| MEDLINE | ID: mdl-28822227
15.
Encephalopathy mimicking non-convulsive status Epilepticus.
Neurosciences (Riyadh)
; 23(1): 52-56, 2018 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-29455222
16.
Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive.
Hum Mutat
; 38(6): 692-703, 2017 06.
Artigo
Inglês
| MEDLINE | ID: mdl-28247525
17.
Expanding the genetic heterogeneity of intellectual disability.
Hum Genet
; 136(11-12): 1419-1429, 2017 11.
Artigo
Inglês
| MEDLINE | ID: mdl-28940097
18.
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Hum Genet
; 136(8): 921-939, 2017 08.
Artigo
Inglês
| MEDLINE | ID: mdl-28600779
19.
Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency.
Am J Hum Genet
; 95(3): 315-25, 2014 Sep 04.
Artigo
Inglês
| MEDLINE | ID: mdl-25175347
20.
Child With Congenital Generalized Lipodystrophy Type 4 for Electrophysiology Study and Catheter Ablation: Anesthetic Challenges.
J Cardiothorac Vasc Anesth
; 36(11): 4228-4229, 2022 11.
Artigo
Inglês
| MEDLINE | ID: mdl-35989241