Detalhe da pesquisa
1.
A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode.
Am J Hum Genet
; 109(9): 1713-1723, 2022 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35948005
2.
Kinesin family member 12-related hepatopathy: A generally indolent disorder with elevated gamma-glutamyl-transferase activity.
Clin Genet
; 2024 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38553872
3.
Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence.
Genet Med
; 25(7): 100836, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37013901
4.
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.
Genet Med
; 25(1): 135-142, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36399134
5.
Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.
Am J Hum Genet
; 105(5): 907-920, 2019 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31607425
6.
A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families.
Hum Mutat
; 42(10): 1221-1228, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34212438
7.
Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation.
Am J Hum Genet
; 102(1): 188-195, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29304374
8.
Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.
Am J Hum Genet
; 102(5): 858-873, 2018 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29727687
9.
Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG.
J Inherit Metab Dis
; 44(4): 987-1000, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33583022
10.
Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia.
Am J Hum Genet
; 92(1): 144-9, 2013 Jan 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-23273569
11.
Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families.
Mol Genet Metab
; 119(1-2): 44-9, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27477828
12.
Metabolic Acidosis and Hypoglycemia in a Child with Leigh-Like Phenotype.
Clin Chem
; 66(5): 739-741, 2020 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32353137
13.
Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus.
Am J Med Genet A
; 161A(9): 2244-9, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23897666
14.
Genetic Insights from Consanguineous Cardiomyopathy Families.
Genes (Basel)
; 14(1)2023 01 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36672924
15.
Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2.
Am J Med Genet A
; 158A(2): 309-14, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22246659
16.
Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis.
Nat Genet
; 54(8): 1214-1226, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35864190
17.
Succinyl-CoA:3-oxoacid coenzyme A transferase (SCOT) deficiency: A rare and potentially fatal metabolic disease.
Biochimie
; 183: 55-62, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33596448
18.
Streamlining and cycle time reduction of the startup phase of clinical trials.
Trials
; 21(1): 115, 2020 Jan 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-31996249
19.
Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia.
JIMD Rep
; 29: 39-46, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26615597