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1.
Leveling the field: Development of an asynchronous interactive module series for genetic counseling trainees on molecular testing and variant interpretation.
J Genet Couns
; 33(1): 151-155, 2024 02.
Article
in English
| MEDLINE | ID: mdl-38197609
2.
Retrospective identification of patients with SRRM2-related neurodevelopmental disorder in a single tertiary children's hospital.
Am J Med Genet A
; 191(8): 2149-2155, 2023 08.
Article
in English
| MEDLINE | ID: mdl-37212523
3.
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.
Am J Hum Genet
; 97(3): 483-92, 2015 Sep 03.
Article
in English
| MEDLINE | ID: mdl-26320891
4.
Identification of a novel nonsense mutation in the FOXP3 gene in a fetus with hydrops--Expanding the phenotype of IPEX syndrome.
Am J Med Genet A
; 170A(1): 226-32, 2016 Jan.
Article
in English
| MEDLINE | ID: mdl-26395338
5.
Atypical Williams syndrome in an infant with complete atrioventricular canal defect.
Am J Med Genet A
; 167A(12): 3108-12, 2015 Dec.
Article
in English
| MEDLINE | ID: mdl-26271350
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