Detalhe da pesquisa
1.
Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency.
Genet Med
; 24(3): 631-644, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906488
2.
A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa.
J Hum Genet
; 62(2): 325-328, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27604556
3.
ADAMTSL4-associated isolated ectopia lentis: Further patients, novel mutations and a detailed phenotype description.
Am J Med Genet A
; 167A(10): 2376-81, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25975359
4.
A Homozygous NDUFS6 Variant Associated with Neuropathy and Optic Atrophy.
J Neuromuscul Dis
; 11(2): 485-491, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38217609
5.
The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome?
Am J Med Genet A
; 161A(9): 2158-66, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23913520
6.
Generalized epilepsy in two patients with 5p duplication.
Neuropediatrics
; 44(4): 225-9, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23483447
7.
[Human genetic diagnostics in hereditary eye diseases : What does the ophthalmologist need to know]. / Humangenetische Diagnostik bei hereditären Augenerkrankungen : Was muss der Augenarzt wissen?
Ophthalmologie
; 120(6): 679-688, 2023 Jun.
Artigo
em Alemão
| MEDLINE | ID: mdl-37266672
8.
Impact of cfDNA Reference Materials on Clinical Performance of Liquid Biopsy NGS Assays.
Cancers (Basel)
; 15(20)2023 Oct 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37894392
9.
Prospective evaluation of NGS-based sequencing in epilepsy patients: results of seven NASGE-associated diagnostic laboratories.
Front Neurol
; 14: 1276238, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38125836
10.
Germline truncating-mutations in BRCA1 and MSH6 in a patient with early onset endometrial cancer.
BMC Cancer
; 12: 531, 2012 Nov 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-23164213
11.
Macrocerebellum: significance and pathogenic considerations.
Cerebellum
; 11(4): 1026-36, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22528964
12.
Case Report: DPM1-CDG: Novel Variant with Severe Phenotype and Literature Review.
Front Genet
; 13: 889829, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35910228
13.
Long-term chemoprevention in patients with adenomatous polyposis coli: an observational study.
Fam Cancer
; 21(4): 463-472, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35570229
14.
Highly sensitive liquid biopsy Duplex sequencing complements tissue biopsy to enhance detection of clinically relevant genetic variants.
Front Oncol
; 12: 1014592, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36636551
15.
Author Correction: Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia.
Nat Commun
; 9(1): 4930, 2018 11 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-30451859
16.
Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia.
Nat Commun
; 9(1): 4250, 2018 10 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30315159
17.
Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria.
Neuromuscul Disord
; 26(11): 744-748, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27751653
18.
Homozygous loss of CHRNA7 on chromosome 15q13.3 causes severe encephalopathy with seizures and hypotonia.
Am J Med Genet A
; 152A(11): 2908-11, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20979196
19.
A novel germline KIT mutation (p.L576P) in a family presenting with juvenile onset of multiple gastrointestinal stromal tumors, skin hyperpigmentations, and esophageal stenosis.
Am J Surg Pathol
; 37(6): 898-905, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23598963
20.
A homozygous microdeletion within ADAMTSL4 in patients with isolated ectopia lentis: evidence of a founder mutation.
Invest Ophthalmol Vis Sci
; 52(2): 695-700, 2011 Feb 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-21051722