Detalhe da pesquisa
1.
Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation.
Am J Hum Genet
; 109(5): 909-927, 2022 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35390279
2.
Recessive, Deleterious Variants in SMG8 Expand the Role of Nonsense-Mediated Decay in Developmental Disorders in Humans.
Am J Hum Genet
; 107(6): 1178-1185, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33242396
3.
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
em Inglês
| MEDLINE | ID: mdl-36324046
4.
Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder.
Genet Med
; 25(11): 100938, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37454282
5.
Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain.
Clin Genet
; 103(4): 484-491, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36576126
6.
Domino liver transplantation for maple syrup urine disease in children: A single-center case series.
Pediatr Transplant
; 27(8): e14603, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37658594
7.
Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire.
Genet Med
; 24(8): 1781-1788, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35503103
8.
Further phenotypic delineation of Alazami syndrome.
Am J Med Genet A
; 188(8): 2485-2490, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35567578
9.
Deficiency of acyl-CoA synthetase 5 is associated with a severe and treatable failure to thrive of neonatal onset.
Clin Genet
; 99(3): 376-383, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33191500
10.
PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights.
Brain
; 142(3): 542-559, 2019 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30668673
11.
Phenotypic spectrum of ALPK3-related cardiomyopathy.
Am J Med Genet A
; 179(7): 1235-1240, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31074094
12.
Reanalysis of exome sequencing data of intellectual disability samples: Yields and benefits.
Clin Genet
; 94(6): 495-501, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30125339
13.
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
em Inglês
| MEDLINE | ID: mdl-28822227
14.
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.
Brain
; 139(Pt 3): 765-81, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26917586
15.
A child with phenylketonuria and focal segmental glomerulosclerosis, the bright side of proteinuria.
Metab Brain Dis
; 32(4): 1119-1121, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28386663
16.
Missense mutations in SLC25A1 are associated with congenital myasthenic syndrome type 23.
Clin Genet
; 97(4): 666-667, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31808147
17.
Consanguinity, endogamy and inborn errors of metabolism in Oman: a cross-sectional study.
Hum Hered
; 77(1-4): 183-8, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25060282
18.
Performance of serum and dried blood spot acylcarnitine profiles for detection of fatty acid ß-oxidation disorders in adult patients with rhabdomyolysis.
J Inherit Metab Dis
; 37(2): 207-13, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23296367
19.
An update on ocular involvement in mucopolysaccharidoses.
Curr Opin Ophthalmol
; 24(5): 379-88, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23872816
20.
MLIP-Associated Myopathy: A Case Report and Review of the Literature.
J Neuromuscul Dis
; 10(2): 293-299, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36641683