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1.
Challenges of secondary finding disclosure in genomic medicine in rare diseases: A nation-wide survey of Japanese facilities outsourcing comprehensive genetic testing.
J Hum Genet
; 68(1): 1-9, 2023 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-36192516
2.
Genetic autopsy and genetic counseling for a case of fatal oligohydramnios due to de novo 17q12 deletion syndrome.
J Obstet Gynaecol Res
; 49(6): 1624-1627, 2023 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-36907825
3.
Difficulties in disclosing secondary findings by facilities performing comprehensive germline genetic testing for rare diseases in Japan.
Congenit Anom (Kyoto)
; 64(3): 116-124, 2024 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-38530047
4.
Reproductive decision-making following the diagnosis of an inherited metabolic disorder via newborn screening in Japan: a qualitative study.
Front Reprod Health
; 5: 1098464, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37273777
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