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1.
The NHGRI Short Course in Genomics: energizing genetics and genomics education in classrooms through direct engagement between educators and scientists.
Genet Med
; 23(1): 222-229, 2021 01.
Article
in English
| MEDLINE | ID: mdl-32929231
2.
Natural history of Ollier disease and Maffucci syndrome: Patient survey and review of clinical literature.
Am J Med Genet A
; 182(5): 1093-1103, 2020 05.
Article
in English
| MEDLINE | ID: mdl-32144835
3.
Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy.
J Med Genet
; 55(2): 122-130, 2018 02.
Article
in English
| MEDLINE | ID: mdl-29122926
4.
Genetic diagnosis in first or second trimester pregnancy loss using exome sequencing: a systematic review of human essential genes.
J Assist Reprod Genet
; 36(8): 1539-1548, 2019 Aug.
Article
in English
| MEDLINE | ID: mdl-31273585
5.
Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.
Am J Med Genet A
; 173(10): 2763-2771, 2017 Oct.
Article
in English
| MEDLINE | ID: mdl-28777491
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