日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Marfanoid phenotype with intellectual disability associated with NKAP mutation: a case report

NKAP基因突变相关的伴有智力障碍的马凡氏表型:病例报告

Semyachkina, Alla N; Nikolaeva, Ekaterina A; Gritsevskaya, Daria Iu; Voinova, Victoria Yu; Kuramagomedova, Rabiat G; Bochenkov, Sergei V; Groznova, Olga S; Parfenenko, Mariia A; Kalashnikova, Olga V; Isupova, Evgenia A

Auditory Phenotype of a Novel Missense Variant in the CEACAM16 Gene in a Large Russian Family With Autosomal Dominant Nonsyndromic Hearing Loss

俄罗斯一个患有常染色体显性非综合征性听力损失的大家族中CEACAM16基因新型错义变异的听觉表型

Markova, Tatiana G; Alekseeva, Natalia N; Ryzhkova, Oxana P; Shatokhina, Olga L; Orlova, Anna A; Zabnenkova, Viktoriia V; Groznova, Olga S; Sagaydak, Olesya V; Chibisova, Svetlana S; Polyakov, Alexander V; Tavartkiladze, George A