Detalhe da pesquisa
1.
WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.
Am J Hum Genet
; 101(1): 139-148, 2017 Jul 06.
Artigo
Inglês
| MEDLINE | ID: mdl-28686853
2.
Mosaic Turner syndrome shows reduced penetrance in an adult population study.
Genet Med
; 21(4): 877-886, 2019 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30181606
3.
Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring.
J Med Genet
; 55(7): 497-504, 2018 07.
Artigo
Inglês
| MEDLINE | ID: mdl-29574422
4.
Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure.
Genet Med
; 18(4): 309-15, 2016 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-26248010
5.
Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance.
Am J Med Genet A
; 167A(9): 2052-64, 2015 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-26097203
6.
Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans.
J Med Genet
; 51(4): 264-7, 2014 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-24459211
7.
Response to Prakash et al.
Genet Med
; 21(8): 1884-1885, 2019 08.
Artigo
Inglês
| MEDLINE | ID: mdl-30573795
8.
Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome.
NPJ Genom Med
; 9(1): 22, 2024 Mar 26.
Artigo
Inglês
| MEDLINE | ID: mdl-38531898
9.
Genetic association analysis of 77,539 genomes reveals rare disease etiologies.
Nat Med
; 29(3): 679-688, 2023 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36928819
10.
Mutations in phospholipase C epsilon 1 are not sufficient to cause diffuse mesangial sclerosis.
Kidney Int
; 75(4): 415-9, 2009 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-19037252
11.
Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans.
Nat Commun
; 6: 8086, 2015 Sep 01.
Artigo
Inglês
| MEDLINE | ID: mdl-26323243
12.
Dominant missense mutations in ABCC9 cause Cantú syndrome.
Nat Genet
; 44(7): 793-6, 2012 May 18.
Artigo
Inglês
| MEDLINE | ID: mdl-22610116
13.
Zellweger syndrome resulting from maternal isodisomy of chromosome 1.
Am J Med Genet A
; 143A(18): 2172-7, 2007 Sep 15.
Artigo
Inglês
| MEDLINE | ID: mdl-17702006