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Clinical genetics

Showing results (111-120 of 9,193) with videos related to

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Clinical Genetics|February 1, 2025
Integrating Prenatal Exome Sequencing and Ultrasonographic Fetal Phenotyping for Assessment of Congenital Malformations: High Molecular Diagnostic Yield and Novel Phenotypic Expansions in a Consanguineous CohortSara H El-Dessouky, Wessam E Sharaf-Eldin, Mona M Aboulghar, et al.
Clinical Genetics|January 31, 2025
Identification of Novel SCMC Gene Variants Associated With Early Embryonic ArrestChanglong Zhang, Shuai Zhao, Honghui Zhang, et al.
Clinical Genetics|January 31, 2025
Toe Polydactyly and Supernumerary Nipple: Broadening the Phenotypic Spectrum of STAR SyndromeOmar Zgheib, Léa Jacques, Louise Frizon, et al.
Clinical Genetics|January 19, 2025
Unexpected High Prevalence of Focal Facial Dermal Dysplasia (FFDD) Type IV Is Linked to a Founder Effect in the Belgian PopulationAude Beyens, Stefanie Van De Voorde, Marta Guerreiro Santano Ramos Da Silva, et al.
Clinical Genetics|January 22, 2025
A Homozygous Variant in HSD17B1 Identified in Women With Poor Ovarian ResponseJingyi Ren, Yan Ouyang, Shuangyao Wang, et al.
Clinical Genetics|January 9, 2025
Genetic Underpinnings of OligoasthenoteratozoospermiaYanting Feng, Wensheng Liu, Junbo Dong, et al.
Clinical Genetics|January 14, 2025
Functional Characterization and In Silico Prediction Tools Improve the Pathogenicity Prediction of Novel Bile Acid Transporter VariantsZiyue Peng, Xin Wang, Ying Li, et al.
Clinical Genetics|January 7, 2025
Loss-of-Function of CLMP Is Associated With Congenital Short Bowel Syndrome and Impaired Intestinal DevelopmentShanshan Chen, Juan Xu, Yongtao Xiao, et al.
Clinical Genetics|December 28, 2024
The Value of ROH Metrics for Predicting Morbidity: Insights From a Large Cohort Analysis of Chromosomal MicroarrayLena Sagi-Dain, Michal Levy, Reut Matar, et al.
Clinical Genetics|December 5, 2024
Biallelic Variants in LRRC45 Impair Ciliogenesis and Cause a Severe Neurological DisorderPeriyasamy Radhakrishnan, Neha Quadri, Florian Erger, et al.
Pageof 920

Showing results (111-120 of 9,193) with videos related to

Sort By:
Pageof 920
Clinical Genetics|February 1, 2025
Integrating Prenatal Exome Sequencing and Ultrasonographic Fetal Phenotyping for Assessment of Congenital Malformations: High Molecular Diagnostic Yield and Novel Phenotypic Expansions in a Consanguineous CohortSara H El-Dessouky, Wessam E Sharaf-Eldin, Mona M Aboulghar, et al.
Clinical Genetics|January 31, 2025
Identification of Novel SCMC Gene Variants Associated With Early Embryonic ArrestChanglong Zhang, Shuai Zhao, Honghui Zhang, et al.
Clinical Genetics|January 31, 2025
Toe Polydactyly and Supernumerary Nipple: Broadening the Phenotypic Spectrum of STAR SyndromeOmar Zgheib, Léa Jacques, Louise Frizon, et al.
Clinical Genetics|January 19, 2025
Unexpected High Prevalence of Focal Facial Dermal Dysplasia (FFDD) Type IV Is Linked to a Founder Effect in the Belgian PopulationAude Beyens, Stefanie Van De Voorde, Marta Guerreiro Santano Ramos Da Silva, et al.
Clinical Genetics|January 22, 2025
A Homozygous Variant in HSD17B1 Identified in Women With Poor Ovarian ResponseJingyi Ren, Yan Ouyang, Shuangyao Wang, et al.
Clinical Genetics|January 9, 2025
Genetic Underpinnings of OligoasthenoteratozoospermiaYanting Feng, Wensheng Liu, Junbo Dong, et al.
Clinical Genetics|January 14, 2025
Functional Characterization and In Silico Prediction Tools Improve the Pathogenicity Prediction of Novel Bile Acid Transporter VariantsZiyue Peng, Xin Wang, Ying Li, et al.
Clinical Genetics|January 7, 2025
Loss-of-Function of CLMP Is Associated With Congenital Short Bowel Syndrome and Impaired Intestinal DevelopmentShanshan Chen, Juan Xu, Yongtao Xiao, et al.
Clinical Genetics|December 28, 2024
The Value of ROH Metrics for Predicting Morbidity: Insights From a Large Cohort Analysis of Chromosomal MicroarrayLena Sagi-Dain, Michal Levy, Reut Matar, et al.
Clinical Genetics|December 5, 2024
Biallelic Variants in LRRC45 Impair Ciliogenesis and Cause a Severe Neurological DisorderPeriyasamy Radhakrishnan, Neha Quadri, Florian Erger, et al.
Pageof 920