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Clinical genetics

Showing results (141-150 of 9,194) with videos related to

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Clinical Genetics|September 27, 2025
High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical DiagnosticsRivka Birnbaum, Maya Slovik, Shamir Zenvirt, et al.
Clinical Genetics|September 29, 2025
Clinical, Biochemical and Molecular Characterisation of Newborns With Fatty Acid β-Oxidation Disorders: Novel Variants in the ACADM, ACADVL and SLC22A5 GenesIrene Hidalgo Mayoral, Amanda Herranz Cecilia, Carmen Rodríguez-Jiménez, et al.
Clinical Genetics|September 22, 2025
Genetic Etiology of 46, XY Disorders of Sex Development in Chinese Patients: Insights From Whole-Exome SequencingHui Jing, Zixuan Wang, Yu Mao, et al.
Clinical Genetics|September 22, 2025
Precision Medicine in Cardiomyopathy: Advances and Future DirectionsMahvish Mehdi, Sushma Verma, Bashir Ahmad Mir, et al.
Clinical Genetics|December 31, 2020
Multi-centre study of the clinical features and gene variant spectrum of Gitelman syndrome in Chinese childrenQian Shen, Jiemei Chen, Minghui Yu, et al.
Clinical Genetics|December 28, 2020
Smith-Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohortNicolas Rive Le Gouard, Adeline Jacquinet, Lyse Ruaud, et al.
Clinical Genetics|December 19, 2020
Molecular intrinsic versus clinical subtyping in breast cancer: A comprehensive reviewAgata Szymiczek, Amna Lone, Mohammad R Akbari
Clinical Genetics|January 4, 2020
Confirming the recessive inheritance of PERP-related erythrokeratodermaNisha Patel, Salim Alkeraye, Eman Alobeid, et al.
Clinical Genetics|January 4, 2020
Phenotypic spectrum of TGFB3 disease-causing variants in a Dutch-French cohort and first report of a homozygous patientLuisa Marsili, Eline Overwater, Nadine Hanna, et al.
Clinical Genetics|January 12, 2020
Novel EWSR1-VGLL1 fusion in a pediatric neuroepithelial neoplasmAdam J Kundishora, Benjamin C Reeves, Carol Nelson-Williams, et al.
Pageof 920

Showing results (141-150 of 9,194) with videos related to

Sort By:
Pageof 920
Clinical Genetics|September 27, 2025
High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical DiagnosticsRivka Birnbaum, Maya Slovik, Shamir Zenvirt, et al.
Clinical Genetics|September 29, 2025
Clinical, Biochemical and Molecular Characterisation of Newborns With Fatty Acid β-Oxidation Disorders: Novel Variants in the ACADM, ACADVL and SLC22A5 GenesIrene Hidalgo Mayoral, Amanda Herranz Cecilia, Carmen Rodríguez-Jiménez, et al.
Clinical Genetics|September 22, 2025
Genetic Etiology of 46, XY Disorders of Sex Development in Chinese Patients: Insights From Whole-Exome SequencingHui Jing, Zixuan Wang, Yu Mao, et al.
Clinical Genetics|September 22, 2025
Precision Medicine in Cardiomyopathy: Advances and Future DirectionsMahvish Mehdi, Sushma Verma, Bashir Ahmad Mir, et al.
Clinical Genetics|December 31, 2020
Multi-centre study of the clinical features and gene variant spectrum of Gitelman syndrome in Chinese childrenQian Shen, Jiemei Chen, Minghui Yu, et al.
Clinical Genetics|December 28, 2020
Smith-Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohortNicolas Rive Le Gouard, Adeline Jacquinet, Lyse Ruaud, et al.
Clinical Genetics|December 19, 2020
Molecular intrinsic versus clinical subtyping in breast cancer: A comprehensive reviewAgata Szymiczek, Amna Lone, Mohammad R Akbari
Clinical Genetics|January 4, 2020
Confirming the recessive inheritance of PERP-related erythrokeratodermaNisha Patel, Salim Alkeraye, Eman Alobeid, et al.
Clinical Genetics|January 4, 2020
Phenotypic spectrum of TGFB3 disease-causing variants in a Dutch-French cohort and first report of a homozygous patientLuisa Marsili, Eline Overwater, Nadine Hanna, et al.
Clinical Genetics|January 12, 2020
Novel EWSR1-VGLL1 fusion in a pediatric neuroepithelial neoplasmAdam J Kundishora, Benjamin C Reeves, Carol Nelson-Williams, et al.
Pageof 920