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Clinical genetics

Showing results (131-140 of 9,194) with videos related to

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Clinical Genetics|February 20, 2025
The Natural Course of Bosch-Boonstra-Schaaf Optic Atrophy SyndromeIlia Valentin, Pilar Caro, Christine Fischer, et al.
Clinical Genetics|February 24, 2025
A Novel UPF1 Variant Associated With a Rare UPF1-Related Neurodevelopmental DisorderZeynep Tümer, Jonas Dalsberg, Gitte Rønde, et al.
Clinical Genetics|November 6, 2024
The Excess of Carriers in Rare Disorders Suggests a Nonpathogenic Effect for Most Variants of Uncertain SignificanceStefano Medaglia, Jaume Reig-Palou, Ariadna Bellés, et al.
Clinical Genetics|October 30, 2024
PERCC1 -Related Congenital EnteropathyLena S Kerle, Pia Karlsland Åkeson, Thomas Müller, et al.
Clinical Genetics|November 14, 2025
A Novel De Novo KDM3B Variant in the Youngest Reported Male Patient With Diets-Jongmans Syndrome and Facial AsymmetrySomin Jo, Christine Lee, Lori White, et al.
Clinical Genetics|November 21, 2025
Functional Validation and Phenotypic Spectrum of Splice-Site Variants in CHD7, FGFR1, and ANOS1 in Congenital Hypogonadotropic HypogonadismYuting Li, Pingchuan Zhang, Jun Guan, et al.
Clinical Genetics|October 7, 2025
Challenges and Pitfalls in Diagnosing Twins With Discordant BWS PhenotypeIacopo Bellani, Valentina Trevisan, Germana Viscogliosi, et al.
Clinical Genetics|October 16, 2025
A Further Case Supporting CCNK as a Neurodevelopmental Disease GeneClara Xiol, Jonathan Olival, Loreto Martorell, et al.
Clinical Genetics|October 6, 2025
Three New Cases of Autosomal Recessive Stickler Syndrome due to Biallelic Variants in the LOXL3 GeneCarmen María Dolores Sánchez, María José Sánchez Soler, María Del Carmen Martínez Romero, et al.
Clinical Genetics|September 27, 2025
Mapping the Prevalence of Lynch Syndrome in the Ceará-Northeast of BrazilMaria Claudia Dos Santos Luciano, Paulo Goberlanio de Barros Silva, Rosane Oliveira de Sant'Ana, et al.
Pageof 920

Showing results (131-140 of 9,194) with videos related to

Sort By:
Pageof 920
Clinical Genetics|February 20, 2025
The Natural Course of Bosch-Boonstra-Schaaf Optic Atrophy SyndromeIlia Valentin, Pilar Caro, Christine Fischer, et al.
Clinical Genetics|February 24, 2025
A Novel UPF1 Variant Associated With a Rare UPF1-Related Neurodevelopmental DisorderZeynep Tümer, Jonas Dalsberg, Gitte Rønde, et al.
Clinical Genetics|November 6, 2024
The Excess of Carriers in Rare Disorders Suggests a Nonpathogenic Effect for Most Variants of Uncertain SignificanceStefano Medaglia, Jaume Reig-Palou, Ariadna Bellés, et al.
Clinical Genetics|October 30, 2024
PERCC1 -Related Congenital EnteropathyLena S Kerle, Pia Karlsland Åkeson, Thomas Müller, et al.
Clinical Genetics|November 14, 2025
A Novel De Novo KDM3B Variant in the Youngest Reported Male Patient With Diets-Jongmans Syndrome and Facial AsymmetrySomin Jo, Christine Lee, Lori White, et al.
Clinical Genetics|November 21, 2025
Functional Validation and Phenotypic Spectrum of Splice-Site Variants in CHD7, FGFR1, and ANOS1 in Congenital Hypogonadotropic HypogonadismYuting Li, Pingchuan Zhang, Jun Guan, et al.
Clinical Genetics|October 7, 2025
Challenges and Pitfalls in Diagnosing Twins With Discordant BWS PhenotypeIacopo Bellani, Valentina Trevisan, Germana Viscogliosi, et al.
Clinical Genetics|October 16, 2025
A Further Case Supporting CCNK as a Neurodevelopmental Disease GeneClara Xiol, Jonathan Olival, Loreto Martorell, et al.
Clinical Genetics|October 6, 2025
Three New Cases of Autosomal Recessive Stickler Syndrome due to Biallelic Variants in the LOXL3 GeneCarmen María Dolores Sánchez, María José Sánchez Soler, María Del Carmen Martínez Romero, et al.
Clinical Genetics|September 27, 2025
Mapping the Prevalence of Lynch Syndrome in the Ceará-Northeast of BrazilMaria Claudia Dos Santos Luciano, Paulo Goberlanio de Barros Silva, Rosane Oliveira de Sant'Ana, et al.
Pageof 920