Mol Genet Genomic Med
Mol Genet Genomic Med
Country: Unknown
Publisher: Unknown
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1209
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Last Updated: Aug 05, 2025
Recent Papers
View All 1209 PapersA novel gain-of-function STAT3 variant in infantile-onset diabetes associated with multiorgan autoimmunity.
Zhou Q, Chen D, Yu J, Zheng B, Zhou W, Jia Z, Zhang A, Gu W.
A novel heterozygous mutation in PTHLH causing autosomal dominant brachydactyly type E complicated with short stature.
Sun J, Yang N, Xu Z, Cheng H, Zhang X.
A novel intronic variant causing aberrant splicing identified in two deaf Chinese siblings with enlarged vestibular aqu…
Wang S, Zhu YM, Xu C, Ding W, Jia H, Bian P, Xu B, Guo Y, Liu X.
Antenatal description of large 4q13.2q21.23 deletion and outcomes.
Giguet-Valard AG, Thevenin C, Dreux S, Decatrelle V, Juve ML, Yazza S, Adenet C, Lesueur M, Bouvagn…
Association of Y chromosome AZF region microdeletions with recurrent miscarriage in Iranian couples: A case-control stu…
Pazoki N, Salehi M, Angaji SA, Abdollahpour-Alitappeh M.
Associations of genetic variants within TYK2 with pulmonary tuberculosis among Chinese population.
Zhang M, Liu Z, Zhu Y, Wu K, Zhou L, Peng Y, Pan J, Chen B, Wang X, Chen S.
Clinical details of individuals with Rauch-Steindl syndrome due to NSD2 truncating variants.
Nishi E, Yanagi K, Kaname T, Okamoto N.
Clinical value of positive CNVs results by NIPT without fetal ultrasonography-identified structural anomalies.
Wang C, Mei L, Wan Y, Li H, Luan S, Lu J, Wang P, Wen L, Han X, Li X, Zhang N.
Hemizygous splicing variant in CNKSR2 results in X-linked intellectual developmental disorder.
Lou Y, Shi X, Su G, Guo Y, Gao L, Wang Y, Miao P, Feng J.
Homozygous variant of MLC1 results in megalencephalic leukoencephalopathy with subcortical cysts.
Zha J, Chen Y, Cao F, Xu Y, Yang Z, Wen S, Liang M, Wu H, Zhong J.