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American Journal of Human Genetics|June 29, 2010
Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfectaPablo Lapunzina, Mona Aglan, Samia Temtamy, et al.
Cells|July 2, 2021
Novel Genetic and Molecular Pathways in Pulmonary Arterial Hypertension Associated with Connective Tissue DiseaseIgnacio Hernandez-Gonzalez, Jair Tenorio-Castano, Nuria Ochoa-Parra, et al.
Genes|November 11, 2022
Clinical and Genetic Analysis of Multiple Osteochondromas in A Cohort of Argentine PatientsSilvia Caino, Marisa Angelica Cubilla, Romina Alba, et al.
Neuromuscular Disorders : NMD|January 16, 2021
Analysis of complex structural variants in the DMD gene in one familyLeonela Luce, Martín M Abelleyro, Micaela Carcione, et al.
European Journal of Medical Genetics|March 18, 2008
Direct tandem duplication in chromosome 19q characterized by array CGHMaria Palomares Bralo, Alicia Delicado, Pablo Lapunzina, et al.
Human Molecular Genetics|May 20, 2011
Methylation screening of reciprocal genome-wide UPDs identifies novel human-specific imprinted genesKazuhiko Nakabayashi, Alex Martin Trujillo, Chiharu Tayama, et al.
European Journal of Medical Genetics|April 1, 2023
Definition and clinical variability of SHANK3-related Phelan-McDermid syndromeMichael Schön, Pablo Lapunzina, Julián Nevado, et al.
Clinical Genetics|October 31, 2023
Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorderAlejandro Parra, Patricia Pascual, Mario Cazalla, et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia|March 17, 2023
Haemophilia B, severe childhood obesity and other extra-haematological features associated with similar 4Mb-deletions on Xq27: Clinical findings, molecular insights and literature updateClaudia P Radic, Miguel M Abelleyro, Betiana Ziegler, et al.
Revista Espanola De Salud Publica|June 15, 2022
[Prevalence and geographic distribution of the Wolf-Hirschhorn syndrome in Spain.]Raquel Blanco Lago, Xana da Silva Mori, Bel Fenellós Cristina, et al.
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