Detalhe da pesquisa
1.
Postnatal outcome of children with antenatal colonic hyperechogenicity.
Prenat Diagn
; 44(1): 28-34, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38054546
2.
Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3.
Am J Hum Genet
; 102(6): 1115-1125, 2018 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29805041
3.
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
em Inglês
| MEDLINE | ID: mdl-28686853
4.
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.
Genet Med
; 22(8): 1338-1347, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32424177
5.
Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3.
Am J Hum Genet
; 105(3): 669, 2019 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31491409
6.
Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.
Front Genet
; 14: 1099995, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37035737
7.
Hypolacrimia and Alacrimia as Diagnostic Features for Genetic or Congenital Conditions.
Invest Ophthalmol Vis Sci
; 63(9): 3, 2022 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35925585
8.
Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital's perspective.
Eur J Hum Genet
; 30(9): 1076-1082, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35729264