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Human Genome Variation
|
June 19, 2020
Unusual context of <i>CENPJ</i> variants and primary microcephaly: compound heterozygosity and nonconsanguinity in an Argentinian patient
Anna M Cueto-González, Mónica Fernández-Cancio, Paula Fernández-Alvarez, et al.
Anales De Pediatria
|
September 30, 2017
[Comparative genomic hybridisation as a first option in genetic diagnosis: 1,000 cases and a cost-benefit analysis]
Neus Castells-Sarret, Anna M Cueto-González, Mar Borregan, et al.
Clinical Genetics
|
May 22, 2024
Functional studies in yeast confirm the pathogenicity of a new GINS3 Meier-Gorlin syndrome variant
Yosra Mehrjoo, Philippe M Campeau, Lama Al Abdi, et al.
Cytogenetic and Genome Research
|
September 19, 2015
A Novel Recurrent Breakpoint Responsible for Rearrangements in the Williams-Beuren Region
Alberto Plaja, Neus Castells, Anna M Cueto-González, et al.
Molecular Genetics & Genomic Medicine
|
October 31, 2019
Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years' experience in Catalonia (Spain)
Andrea Martin-Nalda, Anna M Cueto-González, Ana Argudo-Ramírez, et al.
American Journal of Human Genetics
|
March 26, 2013
Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome
Ranad Shaheen, Mona Aglan, Kim Keppler-Noreuil, et al.
Kidney International Reports
|
July 13, 2023
Neurogenic Defects Occur in <i>LRIG2</i>-Associated Urinary Bladder Disease
Celine Grenier, Filipa M Lopes, Anna M Cueto-González, et al.
Clinical Genetics
|
April 30, 2023
Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13-related: Description of 11 further cases
Francisca Díaz-González, Manuel Parrón-Pajares, Elsa Lucas-Castro, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 22, 2025
Discovery of a DNA methylation episignature as a molecular biomarker for fetal alcohol syndrome
Liselot van der Laan, Raissa Relator, Irene Valenzuela, et al.
Human Mutation
|
May 4, 2021
New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder
Justin O Szot, Anne Slavotinek, Karen Chong, et al.
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Search research articles
Search
Showing results (1-10 of 14) with videos related to
Sort By:
Page
of 2
Human Genome Variation
|
June 19, 2020
Unusual context of <i>CENPJ</i> variants and primary microcephaly: compound heterozygosity and nonconsanguinity in an Argentinian patient
Anna M Cueto-González, Mónica Fernández-Cancio, Paula Fernández-Alvarez, et al.
Anales De Pediatria
|
September 30, 2017
[Comparative genomic hybridisation as a first option in genetic diagnosis: 1,000 cases and a cost-benefit analysis]
Neus Castells-Sarret, Anna M Cueto-González, Mar Borregan, et al.
Clinical Genetics
|
May 22, 2024
Functional studies in yeast confirm the pathogenicity of a new GINS3 Meier-Gorlin syndrome variant
Yosra Mehrjoo, Philippe M Campeau, Lama Al Abdi, et al.
Cytogenetic and Genome Research
|
September 19, 2015
A Novel Recurrent Breakpoint Responsible for Rearrangements in the Williams-Beuren Region
Alberto Plaja, Neus Castells, Anna M Cueto-González, et al.
Molecular Genetics & Genomic Medicine
|
October 31, 2019
Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years' experience in Catalonia (Spain)
Andrea Martin-Nalda, Anna M Cueto-González, Ana Argudo-Ramírez, et al.
American Journal of Human Genetics
|
March 26, 2013
Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome
Ranad Shaheen, Mona Aglan, Kim Keppler-Noreuil, et al.
Kidney International Reports
|
July 13, 2023
Neurogenic Defects Occur in <i>LRIG2</i>-Associated Urinary Bladder Disease
Celine Grenier, Filipa M Lopes, Anna M Cueto-González, et al.
Clinical Genetics
|
April 30, 2023
Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13-related: Description of 11 further cases
Francisca Díaz-González, Manuel Parrón-Pajares, Elsa Lucas-Castro, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 22, 2025
Discovery of a DNA methylation episignature as a molecular biomarker for fetal alcohol syndrome
Liselot van der Laan, Raissa Relator, Irene Valenzuela, et al.
Human Mutation
|
May 4, 2021
New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder
Justin O Szot, Anne Slavotinek, Karen Chong, et al.
Page
of 2