Detalles de la búsqueda
1.
[Diagnosis of a patient with Spinocerebellar ataxia type 29 due to a novel variant of ITPR1 gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(1): 76-80, 2023 Jan 10.
Artículo
en Zh
| MEDLINE | ID: mdl-36585006
2.
Identification of a novel mutation of NOG in family with proximal symphalangism and early genetic counseling.
BMC Med Genet
; 20(1): 169, 2019 11 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-31694554
3.
Case report: Whole exome sequencing identified a novel mutation (p.Y301H) of MAF in a Chinese family with congenital cataracts.
Front Med (Lausanne)
; 11: 1332992, 2024.
Artículo
en Inglés
| MEDLINE | ID: mdl-38487030
4.
Radio frequency ablation for the intrauterine treatment of giant placental chorioangioma associated with fetal compromise: A case report.
Birth Defects Res
; 115(2): 251-257, 2023 Jan 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-36259564
5.
Intrauterine management and outcomes of persistent fetal atrial flutter: A case report.
Birth Defects Res
; 115(16): 1570-1575, 2023 10 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-37491874
6.
Prenatal diagnosis and neonatal phenotype of a de novo microdeletion of 17p11.2p12 associated with Smith-Magenis syndrome and external genital defects.
J Genet
; 992020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32661203
7.
Prenatal diagnosis and neonatal phenotype of a de novo microdeletion of 17p11.2p12 associated with Smith–Magenis syndrome and external genital defects
J Genet
; 2020 Jun; 99: 1-6
Artículo
| IMSEAR | ID: sea-215511
Resultados
1 -
7
de 7
1
Próxima >
>>