Detalhe da pesquisa
1.
Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis.
Am J Hum Genet
; 107(2): 293-310, 2020 08 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32707087
2.
Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.
Am J Hum Genet
; 96(5): 841-9, 2015 May 07.
Artigo
Inglês
| MEDLINE | ID: mdl-25957469
3.
Response to Hall et al.
Am J Hum Genet
; 107(6): 1188-1189, 2020 12 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33275912
4.
De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.
Am J Hum Genet
; 96(3): 462-73, 2015 Mar 05.
Artigo
Inglês
| MEDLINE | ID: mdl-25683120
5.
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.
Am J Hum Genet
; 94(5): 734-44, 2014 May 01.
Artigo
Inglês
| MEDLINE | ID: mdl-24726473
6.
Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia.
Am J Hum Genet
; 92(1): 137-43, 2013 Jan 10.
Artigo
Inglês
| MEDLINE | ID: mdl-23273567
7.
Mutations in KCTD1 cause scalp-ear-nipple syndrome.
Am J Hum Genet
; 92(4): 621-6, 2013 Apr 04.
Artigo
Inglês
| MEDLINE | ID: mdl-23541344
8.
Mutations in ECEL1 cause distal arthrogryposis type 5D.
Am J Hum Genet
; 92(1): 150-6, 2013 Jan 10.
Artigo
Inglês
| MEDLINE | ID: mdl-23261301
9.
Genotype-phenotype relationships in Freeman-Sheldon syndrome.
Am J Med Genet A
; 164A(11): 2808-13, 2014 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-25256237
10.
Multiple mutant T alleles cause haploinsufficiency of Brachyury and short tails in Manx cats.
Mamm Genome
; 24(9-10): 400-8, 2013 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-23949773
11.
Spectrum of mutations that cause distal arthrogryposis types 1 and 2B.
Am J Med Genet A
; 161A(3): 550-5, 2013 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-23401156
12.
Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects.
medRxiv
; 2023 Mar 09.
Artigo
Inglês
| MEDLINE | ID: mdl-36945405
13.
Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects.
HGG Adv
; 4(3): 100213, 2023 07 13.
Artigo
Inglês
| MEDLINE | ID: mdl-37457373