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Yline Capri

Showing results (41-50 of 93) with videos related to

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European Journal of Human Genetics : EJHG|August 14, 2020
Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complicationsChristina Lissewski, Valérie Chune, Francesca Pantaleoni, et al.
Plos Genetics|March 12, 2016
Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP DysregulationValentina Grampa, Marion Delous, Mohamad Zaidan, et al.
Molecular Genetics and Metabolism|October 4, 2015
Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation SequencingAgnès Taillandier, Christelle Domingues, Clémence De Cazanove, et al.
European Journal of Human Genetics : EJHG|December 13, 2021
Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal studyClaire Forde, Emma Burkitt-Wright, Peter D Turnpenny, 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.
Human Mutation|June 24, 2019
Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosisNicolas Chatron, Kevin Cassinari, Olivier Quenez, et al.
Journal of the European Academy of Dermatology and Venereology : JEADV|April 10, 2024
Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS-positive variant patientsDidier Bessis, Anne-Claire Bursztejn, Fanny Morice-Picard, et al.
Frontiers in Endocrinology|July 11, 2022
Mitchell-Riley Syndrome: Improving Clinical Outcomes and Searching for Functional Impact of RFX-6 MutationsCaroline de Gouveia Buff Passone, Gaëlle Vermillac, Willem Staels, et al.
Molecular Autism|October 26, 2019
Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autismHyung-Goo Kim, Jill A Rosenfeld, Daryl A Scott, et al.
European Journal of Human Genetics : EJHG|January 14, 2016
Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemiaHélène Cavé, Aurélie Caye, Nehla Ghedira, et al.
Pageof 10

Showing results (41-50 of 93) with videos related to

Sort By:
Pageof 10
European Journal of Human Genetics : EJHG|August 14, 2020
Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complicationsChristina Lissewski, Valérie Chune, Francesca Pantaleoni, et al.
Plos Genetics|March 12, 2016
Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP DysregulationValentina Grampa, Marion Delous, Mohamad Zaidan, et al.
Molecular Genetics and Metabolism|October 4, 2015
Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation SequencingAgnès Taillandier, Christelle Domingues, Clémence De Cazanove, et al.
European Journal of Human Genetics : EJHG|December 13, 2021
Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal studyClaire Forde, Emma Burkitt-Wright, Peter D Turnpenny, 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.
Human Mutation|June 24, 2019
Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosisNicolas Chatron, Kevin Cassinari, Olivier Quenez, et al.
Journal of the European Academy of Dermatology and Venereology : JEADV|April 10, 2024
Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS-positive variant patientsDidier Bessis, Anne-Claire Bursztejn, Fanny Morice-Picard, et al.
Frontiers in Endocrinology|July 11, 2022
Mitchell-Riley Syndrome: Improving Clinical Outcomes and Searching for Functional Impact of RFX-6 MutationsCaroline de Gouveia Buff Passone, Gaëlle Vermillac, Willem Staels, et al.
Molecular Autism|October 26, 2019
Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autismHyung-Goo Kim, Jill A Rosenfeld, Daryl A Scott, et al.
European Journal of Human Genetics : EJHG|January 14, 2016
Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemiaHélène Cavé, Aurélie Caye, Nehla Ghedira, et al.
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