Independent observation of SRY mutation I90M in a patient with complete gonadal dysgenesis

The potential benefits of genetic testing in breast and ovarian cancer.

Saudi medical journal·2016

[Concepts for the return of secondary genetic findings in medical diagnostics and research].

Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz·2014

Health needs assessment for medical genetic services for congenital disorders in middle- and low-income nations.

Journal of community genetics·2013

International variation in physicians' attitudes towards prophylactic mastectomy - comparison between France, Germany, the Netherlands and the United Kingdom.

European journal of cancer (Oxford, England : 1990)·2013

Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations.

Molecular syndromology·2013

[Health insurance companies and medical genetics, what do they want to know? Expert opinions concerning medical genetic services].

Versicherungsmedizin·2012

Xeroderma Pigmentosum Monozygotic Twins: Same Mutation Divergent Clinical Outcomes.

Human mutation·2026

X;7 Translocation at p21.1 and q31.31 Disrupting DMD: A Multiomics Study of a Male Dystrophinopathy Case.

Human mutation·2026

A Regulator SNP Affecting the Transcription Factor SP1 Binding Site in the PIK3R3 Gene Contributes to Noise-Induced Hearing Loss Risk.

Human mutation·2026

Functional Characterization and Genotype-Phenotype Correlation of Androgen Receptor Variants in Patients With Androgen Insensitivity Syndrome.

Human mutation·2026

Genotype-Phenotype Correlations and Their Implications for Personalized Genetic Counseling in 103 Patients With PRRT2 Mutations.

Human mutation·2026

Integrated Approach to Diagnosing Limb-Girdle Muscular Dystrophies in Resource-Limited Settings.

Human mutation·2026

The genome sequence of a douglasiid moth, Tinagma dryadis Staudinger, 1872 (Lepidoptera: Douglasiidae).

Wellcome open research·2026

[Clinicopathological and molecular genetic characteristics of embryonal rhabdomyosarcoma with divergent neuroectodermal differentiation: an analysis of 17 cases].

Zhonghua bing li xue za zhi = Chinese journal of pathology·2026

Genetic ablation of the adult Leydig cell lineage reveals stem Leydig cells and a peritubular regenerative niche in mice.

Endocrinology·2026

The Detection of BRCA1 and BRCA2 Mutations in Saudi Females with Breast Cancer in Al-Madinah Province by Next Generation Sequencing.

Clinical laboratory·2026

Body composition, but not morphological masculinity, is associated with biological aging markers in middle-aged men.

Aging·2026

Elucidating Gene Functions in Congenital Heart Disease.

Current treatment options in cardiovascular medicine·2026

Related Experiment Videos

Independent observation of SRY mutation I90M in a patient with complete gonadal dysgenesis

Related Concept Videos

The potential benefits of genetic testing in breast and ovarian cancer.

[Concepts for the return of secondary genetic findings in medical diagnostics and research].

Health needs assessment for medical genetic services for congenital disorders in middle- and low-income nations.

International variation in physicians' attitudes towards prophylactic mastectomy - comparison between France, Germany, the Netherlands and the United Kingdom.

Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations.

[Health insurance companies and medical genetics, what do they want to know? Expert opinions concerning medical genetic services].

Xeroderma Pigmentosum Monozygotic Twins: Same Mutation Divergent Clinical Outcomes.

X;7 Translocation at p21.1 and q31.31 Disrupting DMD: A Multiomics Study of a Male Dystrophinopathy Case.

A Regulator SNP Affecting the Transcription Factor SP1 Binding Site in the PIK3R3 Gene Contributes to Noise-Induced Hearing Loss Risk.

Functional Characterization and Genotype-Phenotype Correlation of Androgen Receptor Variants in Patients With Androgen Insensitivity Syndrome.

Genotype-Phenotype Correlations and Their Implications for Personalized Genetic Counseling in 103 Patients With PRRT2 Mutations.

Integrated Approach to Diagnosing Limb-Girdle Muscular Dystrophies in Resource-Limited Settings.

The genome sequence of a douglasiid moth, Tinagma dryadis Staudinger, 1872 (Lepidoptera: Douglasiidae).

[Clinicopathological and molecular genetic characteristics of embryonal rhabdomyosarcoma with divergent neuroectodermal differentiation: an analysis of 17 cases].

Genetic ablation of the adult Leydig cell lineage reveals stem Leydig cells and a peritubular regenerative niche in mice.

The Detection of BRCA1 and BRCA2 Mutations in Saudi Females with Breast Cancer in Al-Madinah Province by Next Generation Sequencing.

Body composition, but not morphological masculinity, is associated with biological aging markers in middle-aged men.

Elucidating Gene Functions in Congenital Heart Disease.

Related Experiment Videos

Independent observation of SRY mutation I90M in a patient with complete gonadal dysgenesis

Related Concept Videos

Related Articles