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Journal of Internal Medicine
|
May 22, 2023
Precision medicine in rare diseases: What is next?
Bianca Tesi, Catherine Boileau, Kym M Boycott, et al.
Journal of Medical Genetics
|
August 6, 2017
Mutations in <i>MYO1H</i> cause a recessive form of central hypoventilation with autonomic dysfunction
Malte Spielmann, Luis R Hernandez-Miranda, Isabella Ceccherini, et al.
Journal of Medical Internet Research
|
October 22, 2020
Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study
Jean Tori Pantel, Nurulhuda Hajjir, Magdalena Danyel, et al.
Nature
|
February 22, 2019
The single-cell transcriptional landscape of mammalian organogenesis
Junyue Cao, Malte Spielmann, Xiaojie Qiu, et al.
Autism Research : Official Journal of the International Society for Autism Research
|
January 28, 2022
LRFN5 locus structure is associated with autism and influenced by the sex of the individual and locus conversions
Helle Lybaek, Michael Robson, Nicole de Leeuw, et al.
Blood Advances
|
September 9, 2021
Aggressive B-cell lymphoma cases with 11q aberration patterns indicate a spectrum beyond Burkitt-like lymphoma
Niklas Gebauer, Hanno M Witte, Hartmut Merz, et al.
Journal of Medical Genetics
|
October 13, 2022
Disruption of the topologically associated domain at Xp21.2 is related to 46,XY gonadal dysgenesis
Jakob A Meinel, Verónica Yumiceba, Axel Künstner, et al.
American Journal of Human Genetics
|
January 16, 2024
STIGMA: Single-cell tissue-specific gene prioritization using machine learning
Saranya Balachandran, Cesar A Prada-Medina, Martin A Mensah, et al.
Nucleic Acids Research
|
April 28, 2020
VarFish: comprehensive DNA variant analysis for diagnostics and research
Manuel Holtgrewe, Oliver Stolpe, Mikko Nieminen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 10, 2023
HOXD13-associated synpolydactyly: Extending and validating the genotypic and phenotypic spectrum with 38 new and 49 published families
Annika Gottschalk, Henrike L Sczakiel, Wiebke Hülsemann, et al.
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of 14
Search research articles
Search
Showing results (61-70 of 137) with videos related to
Sort By:
Page
of 14
Journal of Internal Medicine
|
May 22, 2023
Precision medicine in rare diseases: What is next?
Bianca Tesi, Catherine Boileau, Kym M Boycott, et al.
Journal of Medical Genetics
|
August 6, 2017
Mutations in <i>MYO1H</i> cause a recessive form of central hypoventilation with autonomic dysfunction
Malte Spielmann, Luis R Hernandez-Miranda, Isabella Ceccherini, et al.
Journal of Medical Internet Research
|
October 22, 2020
Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study
Jean Tori Pantel, Nurulhuda Hajjir, Magdalena Danyel, et al.
Nature
|
February 22, 2019
The single-cell transcriptional landscape of mammalian organogenesis
Junyue Cao, Malte Spielmann, Xiaojie Qiu, et al.
Autism Research : Official Journal of the International Society for Autism Research
|
January 28, 2022
LRFN5 locus structure is associated with autism and influenced by the sex of the individual and locus conversions
Helle Lybaek, Michael Robson, Nicole de Leeuw, et al.
Blood Advances
|
September 9, 2021
Aggressive B-cell lymphoma cases with 11q aberration patterns indicate a spectrum beyond Burkitt-like lymphoma
Niklas Gebauer, Hanno M Witte, Hartmut Merz, et al.
Journal of Medical Genetics
|
October 13, 2022
Disruption of the topologically associated domain at Xp21.2 is related to 46,XY gonadal dysgenesis
Jakob A Meinel, Verónica Yumiceba, Axel Künstner, et al.
American Journal of Human Genetics
|
January 16, 2024
STIGMA: Single-cell tissue-specific gene prioritization using machine learning
Saranya Balachandran, Cesar A Prada-Medina, Martin A Mensah, et al.
Nucleic Acids Research
|
April 28, 2020
VarFish: comprehensive DNA variant analysis for diagnostics and research
Manuel Holtgrewe, Oliver Stolpe, Mikko Nieminen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 10, 2023
HOXD13-associated synpolydactyly: Extending and validating the genotypic and phenotypic spectrum with 38 new and 49 published families
Annika Gottschalk, Henrike L Sczakiel, Wiebke Hülsemann, et al.
Page
of 14