Detalhe da pesquisa
1.
Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.
J Am Soc Nephrol
; 32(6): 1498-1512, 2021 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33811157
2.
ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease.
Genome Res
; 28(1): 100-110, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29162642
3.
Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".
Am J Hum Genet
; 101(5): 815-823, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29100092
4.
Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency.
Gastroenterology
; 155(1): 130-143.e15, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29604290
5.
Nephrotic Syndrome With Mutations in NPHS2: The Role of R229Q and Implications for Genetic Counseling.
Am J Kidney Dis
; 73(3): 400-403, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30241959
6.
Improved detection of CFTR variants by targeted next-generation sequencing in male infertility: a case series.
Reprod Biomed Online
; 39(6): 963-968, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31672438
7.
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.
Am J Hum Genet
; 97(6): 904-13, 2015 Dec 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26637980
8.
A Missense Mutation in the Extracellular Domain of αENaC Causes Liddle Syndrome.
J Am Soc Nephrol
; 28(11): 3291-3299, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28710092
9.
A Novel Hypokalemic-Alkalotic Salt-Losing Tubulopathy in Patients with CLDN10 Mutations.
J Am Soc Nephrol
; 28(10): 3118-3128, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28674042
10.
Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia.
Hum Mutat
; 38(11): 1592-1605, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28801929
11.
Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems.
Am J Hum Genet
; 94(5): 649-61, 2014 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24726472
12.
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Genet Med
; 19(6): 667-675, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28574513
13.
Genome sequencing as a generic diagnostic strategy for rare disease.
Genome Med
; 16(1): 32, 2024 Feb 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38355605
14.
A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases.
Hum Mutat
; 34(12): 1721-6, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24123792
15.
Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.
J Med Genet
; 49(3): 179-83, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22368300
16.
Kidney Disease Associated With Mono-allelic COL4A3 and COL4A4 Variants: A Case Series of 17 Families.
Kidney Med
; 5(4): 100607, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36925663
17.
Later Response to Corticosteroids in Adults With Primary Focal Segmental Glomerular Sclerosis Is Associated With Favorable Outcomes.
Kidney Int Rep
; 7(1): 87-98, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-35005317
18.
Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA.
NPJ Genom Med
; 7(1): 65, 2022 Nov 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36351915
19.
Challenges in diagnosis and management of neonatal hyperparathyroidism in a resource-limited country: a case series from a Sudanese family.
Pan Afr Med J
; 40: 105, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34887979
20.
Polycystic liver disease genes: Practical considerations for genetic testing.
Eur J Med Genet
; 64(3): 104160, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33556586