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1.
FGF9 variant in 46,XY DSD patient suggests a role for dimerization in sex determination.
Clin Genet
; 103(3): 277-287, 2023 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-36349847
2.
Parental experiences of ultrarapid genomic testing for their critically unwell infants and children.
Genet Med
; 22(12): 1976-1985, 2020 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-32719395
3.
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System.
JAMA
; 323(24): 2503-2511, 2020 06 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-32573669
4.
Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development.
Hum Mutat
; 39(1): 124-139, 2018 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29027299
5.
Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems.
Hum Mol Genet
; 24(25): 7171-81, 2015 Dec 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-26443594
6.
Is there a Role for Genetic Counselors in Prenatal Paternity Testing? - an Assessment Based on Audit of 13 years of Clinical Experience in South Australia.
J Genet Couns
; 26(1): 159-172, 2017 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-27443149
7.
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.
Genome Biol
; 17(1): 243, 2016 11 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-27899157
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