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Clinical genetics

Showing results (301-310 of 7,173) with videos related to

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Clinical Genetics|March 13, 2020
Clinical implications of experimental analyses of AID function on predictive computational tools: Challenge of missense variantsHassan Abolhassani, Harold Marcotte, Mingyan Fang, et al.
Clinical Genetics|January 24, 2020
Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributorJair Tenorio, Julián Nevado, Antonio González-Meneses, et al.
Clinical Genetics|December 4, 2019
COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlapSilvia Morlino, Lucia Micale, Marco Ritelli, et al.
Clinical Genetics|January 8, 2019
Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genesLaura Mary, Kirsley Chennen, Corinne Stoetzel, et al.
Clinical Genetics|December 9, 2020
Novel ACTG2 variants disclose allelic heterogeneity and bi-allelic inheritance in pediatric chronic intestinal pseudo-obstructionIvana Matera, Domenico Bordo, Marco Di Duca, et al.
Clinical Genetics|November 29, 2020
Tooth agenesis: What do we know and is there a connection to cancer?Ondrej Bonczek, Premysl Krejci, Lydie Izakovicova-Holla, et al.
Clinical Genetics|December 12, 2018
MicroRNA single-nucleotide polymorphisms and diabetes mellitus: A comprehensive reviewYanfen Zhang, Ruocen Bai, Chong Liu, et al.
Clinical Genetics|December 22, 2017
Application of next-generation sequencing to improve cancer management: A review of the clinical effectiveness and cost-effectivenessO Tan, R Shrestha, M Cunich, et al.
Clinical Genetics|December 29, 2017
Homozygous TMEM127 mutations in 2 patients with bilateral pheochromocytomasK Eijkelenkamp, M J W Olderode-Berends, R B van der Luijt, et al.
Clinical Genetics|December 30, 2017
Diagnostic exome sequencing of syndromic epilepsy patients in clinical practiceB Tumienė, A Maver, K Writzl, et al.
Pageof 718

Showing results (301-310 of 7,173) with videos related to

Sort By:
Pageof 718
Clinical Genetics|March 13, 2020
Clinical implications of experimental analyses of AID function on predictive computational tools: Challenge of missense variantsHassan Abolhassani, Harold Marcotte, Mingyan Fang, et al.
Clinical Genetics|January 24, 2020
Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributorJair Tenorio, Julián Nevado, Antonio González-Meneses, et al.
Clinical Genetics|December 4, 2019
COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlapSilvia Morlino, Lucia Micale, Marco Ritelli, et al.
Clinical Genetics|January 8, 2019
Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genesLaura Mary, Kirsley Chennen, Corinne Stoetzel, et al.
Clinical Genetics|December 9, 2020
Novel ACTG2 variants disclose allelic heterogeneity and bi-allelic inheritance in pediatric chronic intestinal pseudo-obstructionIvana Matera, Domenico Bordo, Marco Di Duca, et al.
Clinical Genetics|November 29, 2020
Tooth agenesis: What do we know and is there a connection to cancer?Ondrej Bonczek, Premysl Krejci, Lydie Izakovicova-Holla, et al.
Clinical Genetics|December 12, 2018
MicroRNA single-nucleotide polymorphisms and diabetes mellitus: A comprehensive reviewYanfen Zhang, Ruocen Bai, Chong Liu, et al.
Clinical Genetics|December 22, 2017
Application of next-generation sequencing to improve cancer management: A review of the clinical effectiveness and cost-effectivenessO Tan, R Shrestha, M Cunich, et al.
Clinical Genetics|December 29, 2017
Homozygous TMEM127 mutations in 2 patients with bilateral pheochromocytomasK Eijkelenkamp, M J W Olderode-Berends, R B van der Luijt, et al.
Clinical Genetics|December 30, 2017
Diagnostic exome sequencing of syndromic epilepsy patients in clinical practiceB Tumienė, A Maver, K Writzl, et al.
Pageof 718