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1.
Loeys-Dietz syndrome caused by 1q41 deletion including TGFB2 is associated with a neurodevelopmental phenotype.
Am J Med Genet A
; 188(7): 2237-2241, 2022 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-35426477
2.
Movement of Genetic Counselors from Clinical to Non-clinical Positions: Identifying Driving Forces.
J Genet Couns
; 27(4): 792-799, 2018 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-29508181
3.
Genetic Counselor Workforce Issues: a Survey of Genetic Counselors Licensed in the State of Indiana.
J Genet Couns
; 26(3): 567-575, 2017 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-27722951
4.
Heme and sensory neuropathy: insights from novel mutations in the heme exporter feline leukemia virus subgroup C receptor 1.
Pain
; 160(12): 2766-2775, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31408049
5.
De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay.
Cold Spring Harb Mol Case Stud
; 1(1): a000562, 2015 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-27148574
6.
Phenotypic spectrum of mosaic trisomy 18: two new patients, a literature review, and counseling issues.
Am J Med Genet A
; 143A(5): 505-17, 2007 Mar 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-17266111
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