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1.
Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice.
Genet Med;
23(6): 1125-1136, 2021 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-33742171
2.
Evolution of Dihydropyrimidine Dehydrogenase Diagnostic Testing in a Single Center during an 8-Year Period of Time.
Curr Ther Res Clin Exp;
90: 1-7, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-30510603
3.
Detection of PTCH1 Copy-Number Variants in Mosaic Basal Cell Nevus Syndrome.
Biomedicines;
12(2)2024 Jan 31.
Artículo
en Inglés
| MEDLINE | ID: mdl-38397932
4.
Extreme phenotypic variability of a novel GLI2 mutation in a large family with panhypopituitarism and polydactyly: clinical implications.
Clin Endocrinol (Oxf);
89(3): 378-380, 2018 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-29876959
5.
Anthropometry, carbohydrate and lipid metabolism in the East Flanders Prospective Twin Survey: linkage of candidate genes using two sib-pair based variance components analyses.
Twin Res Hum Genet;
11(5): 505-16, 2008 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-18828733
6.
Rare novel variants in the ZIC3 gene cause X-linked heterotaxy.
Eur J Hum Genet;
24(12): 1783-1791, 2016 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-27406248
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