[Rapid carrier detection and prenatal gene diagnosis in DMD/BMD families by linkage analysis]

Identification of novel JAK3 variants in a suspected SCID patient and two couples undergoing carrier screening.

Frontiers in genetics·2026

Genetic analysis and reproductive interventions in families affected by congenital cataracts: a study of 107 cases.

Journal of applied genetics·2026

SPEM2 deficiency disrupts spermiation leading to oligoasthenoteratozoospermia and male infertility†.

Biology of reproduction·2026

Biallelic variants in TBC1D8 are potentially associated with male infertility due to non-obstructive azoospermia or cryptozoospermia.

Asian journal of andrology·2026

Women with FSHR-inactivating mutations causing resistant ovarian syndrome benefit from oocyte in-vitro maturation.

Reproductive biomedicine online·2025

Genetic Study and Prenatal Diagnosis of Inherited Glycosylphosphatidylinositol Disorders due to Novel Variants in Phosphatidylinositol Glycan Genes.

Clinical genetics·2025

[Meconium-stained amniotic fluid and intra-amniotic infection].

Hunan yi ke da xue xue bao = Hunan yike daxue xuebao = Bulletin of Hunan Medical University·2005

[Clinical analysis of intrahepatic cholestasis during pregnancy in 150 patients].

Hunan yi ke da xue xue bao = Hunan yike daxue xuebao = Bulletin of Hunan Medical University·2005

[Etiologic analysis of 1137 inpatients of chronic renal failure].

Hunan yi ke da xue xue bao = Hunan yike daxue xuebao = Bulletin of Hunan Medical University·2005

[Serum levels of antibodies for IgG, IgA, and IgM against the fungi antigen in psoriasis vulgaris].

Hunan yi ke da xue xue bao = Hunan yike daxue xuebao = Bulletin of Hunan Medical University·2005

[Percutaneous transcatheter closure for secundum atrial septal defect].

Hunan yi ke da xue xue bao = Hunan yike daxue xuebao = Bulletin of Hunan Medical University·2005

[Effects of nitric oxide on form-deprivation myopia in chicks].

Hunan yi ke da xue xue bao = Hunan yike daxue xuebao = Bulletin of Hunan Medical University·2005

Further delineation of 2p13.2-p11.2 deletion syndrome by optical genome mapping.

Neurogenetics·2026

Bidirectional associations between brain functional networks and sleep disorders: A bidirectional Mendelian randomization study.

Medicine·2026

Duodenal fluid analysis of 13 patients with progressive familial intrahepatic cholestasis type 2 from a single institution.

Medicine·2026

Genetic evidence for CTSH as a potential therapeutic target in sepsis: A Mendelian randomization and colocalization study.

Medicine·2026

Genetic and clinical spectrum of progressive familial intrahepatic cholestasis type 1: novel ATP8B1 variants and genotype-phenotype correlations.

European journal of pediatrics·2026

Genetically supported targets and drug repurposing for sleep disorders: a Mendelian randomization systematic study.

Naunyn-Schmiedeberg's archives of pharmacology·2026

Related Experiment Videos

[Rapid carrier detection and prenatal gene diagnosis in DMD/BMD families by linkage analysis]

Related Concept Videos

Identification of novel JAK3 variants in a suspected SCID patient and two couples undergoing carrier screening.

Genetic analysis and reproductive interventions in families affected by congenital cataracts: a study of 107 cases.

SPEM2 deficiency disrupts spermiation leading to oligoasthenoteratozoospermia and male infertility†.

Biallelic variants in TBC1D8 are potentially associated with male infertility due to non-obstructive azoospermia or cryptozoospermia.

Women with FSHR-inactivating mutations causing resistant ovarian syndrome benefit from oocyte in-vitro maturation.

Genetic Study and Prenatal Diagnosis of Inherited Glycosylphosphatidylinositol Disorders due to Novel Variants in Phosphatidylinositol Glycan Genes.

[Meconium-stained amniotic fluid and intra-amniotic infection].

[Clinical analysis of intrahepatic cholestasis during pregnancy in 150 patients].

[Etiologic analysis of 1137 inpatients of chronic renal failure].

[Serum levels of antibodies for IgG, IgA, and IgM against the fungi antigen in psoriasis vulgaris].

[Percutaneous transcatheter closure for secundum atrial septal defect].

[Effects of nitric oxide on form-deprivation myopia in chicks].

Further delineation of 2p13.2-p11.2 deletion syndrome by optical genome mapping.

Bidirectional associations between brain functional networks and sleep disorders: A bidirectional Mendelian randomization study.

Duodenal fluid analysis of 13 patients with progressive familial intrahepatic cholestasis type 2 from a single institution.

Genetic evidence for CTSH as a potential therapeutic target in sepsis: A Mendelian randomization and colocalization study.

Genetic and clinical spectrum of progressive familial intrahepatic cholestasis type 1: novel ATP8B1 variants and genotype-phenotype correlations.

Genetically supported targets and drug repurposing for sleep disorders: a Mendelian randomization systematic study.

Related Experiment Videos

[Rapid carrier detection and prenatal gene diagnosis in DMD/BMD families by linkage analysis]

Related Concept Videos

Related Articles