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European Journal of Human Genetics : EJHG
|
November 6, 2019
Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients
Jair Tenorio, Pablo Alarcón, Pedro Arias, et al.
International Journal of Environmental Research and Public Health
|
December 17, 2020
Persistence of COVID-19 Symptoms after Recovery in Mexican Population
Carlos E Galván-Tejada, Cintya Fabiola Herrera-García, Susana Godina-González, et al.
American Journal of Human Genetics
|
August 2, 2011
Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype
María Palomares, Alicia Delicado, Elena Mansilla, et al.
Molecular Genetics & Genomic Medicine
|
January 25, 2017
Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta
Jose A Caparros-Martin, Mona S Aglan, Samia Temtamy, et al.
United European Gastroenterology Journal
|
January 8, 2025
Leishmaniasis in Patients With Inflammatory Bowel Disease: A National Multicenter Study of GETECCU
L Madero-Velázquez, A Mínguez, L Mayorga, et al.
American Journal of Medical Genetics. Part A
|
January 28, 2017
Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia
Jair Tenorio, Ignacio Álvarez, Leyre Riancho-Zarrabeitia, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 5, 2022
FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects
Auriane Cospain, Ana Rivera-Barahona, Erwan Dumontet, et al.
Biorxiv : the Preprint Server for Biology
|
February 20, 2025
c-Rel drives pancreatic cancer metastasis through Fibronectin-Integrin signaling-induced isolation stress resistance and EMT activation
D Bakırdöğen, K Görgülü, J Xin, et al.
Human Mutation
|
September 25, 2019
Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B
Adrián Palencia-Campos, María-Luisa Martínez-Fernández, Umut Altunoglu, et al.
American Journal of Human Genetics
|
March 19, 2013
Mutations in WNT1 cause different forms of bone fragility
Katharina Keupp, Filippo Beleggia, Hülya Kayserili, et al.
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of 91
Search research articles
Search
Showing results (871-880 of 908) with videos related to
Sort By:
Page
of 91
European Journal of Human Genetics : EJHG
|
November 6, 2019
Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients
Jair Tenorio, Pablo Alarcón, Pedro Arias, et al.
International Journal of Environmental Research and Public Health
|
December 17, 2020
Persistence of COVID-19 Symptoms after Recovery in Mexican Population
Carlos E Galván-Tejada, Cintya Fabiola Herrera-García, Susana Godina-González, et al.
American Journal of Human Genetics
|
August 2, 2011
Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype
María Palomares, Alicia Delicado, Elena Mansilla, et al.
Molecular Genetics & Genomic Medicine
|
January 25, 2017
Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta
Jose A Caparros-Martin, Mona S Aglan, Samia Temtamy, et al.
United European Gastroenterology Journal
|
January 8, 2025
Leishmaniasis in Patients With Inflammatory Bowel Disease: A National Multicenter Study of GETECCU
L Madero-Velázquez, A Mínguez, L Mayorga, et al.
American Journal of Medical Genetics. Part A
|
January 28, 2017
Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia
Jair Tenorio, Ignacio Álvarez, Leyre Riancho-Zarrabeitia, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 5, 2022
FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects
Auriane Cospain, Ana Rivera-Barahona, Erwan Dumontet, et al.
Biorxiv : the Preprint Server for Biology
|
February 20, 2025
c-Rel drives pancreatic cancer metastasis through Fibronectin-Integrin signaling-induced isolation stress resistance and EMT activation
D Bakırdöğen, K Görgülü, J Xin, et al.
Human Mutation
|
September 25, 2019
Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B
Adrián Palencia-Campos, María-Luisa Martínez-Fernández, Umut Altunoglu, et al.
American Journal of Human Genetics
|
March 19, 2013
Mutations in WNT1 cause different forms of bone fragility
Katharina Keupp, Filippo Beleggia, Hülya Kayserili, et al.
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of 91