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American Journal of Human Genetics
|
March 21, 2020
Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification
Xiaomin Dong, Natalie B Tan, Katherine B Howell, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 15, 2021
DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies
Jennifer Kerkhof, Gabriella Maria Squeo, Haley McConkey, et al.
American Journal of Medical Genetics. Part A
|
March 26, 2011
Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C
Karen W Gripp, Elizabeth Hopkins, Katia Sol-Church, et al.
European Journal of Human Genetics : EJHG
|
July 10, 2020
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann-Steiner and Rubinstein-Taybi syndromes
Elisabetta Di Fede, Valentina Massa, Bartolomeo Augello, et al.
Genes
|
May 28, 2022
12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature
Maria Paola Recalcati, Ilaria Catusi, Maria Garzo, et al.
Journal of Affective Disorders
|
November 17, 2007
Bipolar disorders and affective temperaments: a national family study testing the "endophenotype" and "subaffective" theses using the TEMPS-A Buenos Aires
Gustavo H Vázquez, Clara Kahn, Claudia E Schiavo, et al.
Human Genetics
|
March 26, 2015
Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire
Daniela Rusconi, Gloria Negri, Patrizia Colapietro, et al.
The Journal of Clinical Endocrinology and Metabolism
|
October 16, 2024
Distinguishing Genetic Alterations Versus (Epi)Mutations in Silver-Russell Syndrome and Focus on the IGF1R Gene
Alessandro Vimercati, Pierpaola Tannorella, Sara Guzzetti, et al.
European Journal of Medical Genetics
|
December 21, 2024
Molecular and clinical Insights into KMT2E-Related O'Donnell-Luria-Rodan syndrome in a novel patient cohort
Davide Vecchio, Filippo M Panfili, Marina Macchiaiolo, et al.
Medicina (Kaunas, Lithuania)
|
February 24, 2024
<i>RP1</i> Dominant p.Ser740* Pathogenic Variant in 20 Knowingly Unrelated Families Affected by Rod-Cone Dystrophy: Potential Founder Effect in Western Sicily
Fabiana D'Esposito, Viviana Randazzo, Maria Igea Vega, et al.
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of 8
Search research articles
Search
Showing results (51-60 of 74) with videos related to
Sort By:
Page
of 8
American Journal of Human Genetics
|
March 21, 2020
Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification
Xiaomin Dong, Natalie B Tan, Katherine B Howell, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 15, 2021
DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies
Jennifer Kerkhof, Gabriella Maria Squeo, Haley McConkey, et al.
American Journal of Medical Genetics. Part A
|
March 26, 2011
Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C
Karen W Gripp, Elizabeth Hopkins, Katia Sol-Church, et al.
European Journal of Human Genetics : EJHG
|
July 10, 2020
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann-Steiner and Rubinstein-Taybi syndromes
Elisabetta Di Fede, Valentina Massa, Bartolomeo Augello, et al.
Genes
|
May 28, 2022
12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature
Maria Paola Recalcati, Ilaria Catusi, Maria Garzo, et al.
Journal of Affective Disorders
|
November 17, 2007
Bipolar disorders and affective temperaments: a national family study testing the "endophenotype" and "subaffective" theses using the TEMPS-A Buenos Aires
Gustavo H Vázquez, Clara Kahn, Claudia E Schiavo, et al.
Human Genetics
|
March 26, 2015
Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire
Daniela Rusconi, Gloria Negri, Patrizia Colapietro, et al.
The Journal of Clinical Endocrinology and Metabolism
|
October 16, 2024
Distinguishing Genetic Alterations Versus (Epi)Mutations in Silver-Russell Syndrome and Focus on the IGF1R Gene
Alessandro Vimercati, Pierpaola Tannorella, Sara Guzzetti, et al.
European Journal of Medical Genetics
|
December 21, 2024
Molecular and clinical Insights into KMT2E-Related O'Donnell-Luria-Rodan syndrome in a novel patient cohort
Davide Vecchio, Filippo M Panfili, Marina Macchiaiolo, et al.
Medicina (Kaunas, Lithuania)
|
February 24, 2024
<i>RP1</i> Dominant p.Ser740* Pathogenic Variant in 20 Knowingly Unrelated Families Affected by Rod-Cone Dystrophy: Potential Founder Effect in Western Sicily
Fabiana D'Esposito, Viviana Randazzo, Maria Igea Vega, et al.
Page
of 8