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American Journal of Medical Genetics. Part A
|
April 1, 2004
Primary immunodeficiency in combination with transverse upper limb defect and anal atresia in a 34-year-old patient with Jacobsen syndrome
Dagmar von Bubnoff, Martina Kreiss-Nachtsheim, Natalija Novak, et al.
Clinical Case Reports
|
September 15, 2018
Congenital diaphragmatic hernia in a case of Cat eye syndrome
Ebru Aileen Alsat, Heiko Reutter, Soyhan Bagci, et al.
Haematologica
|
January 27, 2022
Occurrence of a paroxysmal nocturnal hemoglobinuria clone in an essential thrombocythemia: a link between <i>PIGV</i> and <i>MPL</i>
Alexej Knaus, François Vergez, Cédric Garcia, et al.
Human Mutation
|
April 5, 2014
Cantú syndrome resulting from activating mutation in the KCNJ8 gene
Paige E Cooper, Heiko Reutter, Joachim Woelfle, et al.
American Journal of Medical Genetics. Part A
|
July 9, 2011
Five patients with novel overlapping interstitial deletions in 8q22.2q22.3
Alma Kuechler, Karen Buysse, Jill Clayton-Smith, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology
|
December 19, 2015
Array-based molecular karyotyping in fetal brain malformations: Identification of novel candidate genes and chromosomal regions
Sophia K Krutzke, Hartmut Engels, Andrea Hofmann, et al.
European Journal of Human Genetics : EJHG
|
October 7, 2006
Towards mapping phenotypical traits in 18p- syndrome by array-based comparative genomic hybridisation and fluorescent in situ hybridisation
Christian H Brenk, Eva-Christina Prott, Detlef Trost, et al.
European Journal of Human Genetics : EJHG
|
July 21, 2016
De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth
Johanna Schäfgen, Kirsten Cremer, Jessica Becker, et al.
Human Molecular Genetics
|
May 5, 2007
Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4
Antje Brockschmidt, Unda Todt, Soojin Ryu, et al.
Human Genetics
|
April 5, 2013
Dissecting the genotype in syndromic intellectual disability using whole exome sequencing in addition to genome-wide copy number analysis
Carl Friedrich Classen, Vera Riehmer, Christina Landwehr, et al.
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Search research articles
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Showing results (11-20 of 73) with videos related to
Sort By:
Page
of 8
American Journal of Medical Genetics. Part A
|
April 1, 2004
Primary immunodeficiency in combination with transverse upper limb defect and anal atresia in a 34-year-old patient with Jacobsen syndrome
Dagmar von Bubnoff, Martina Kreiss-Nachtsheim, Natalija Novak, et al.
Clinical Case Reports
|
September 15, 2018
Congenital diaphragmatic hernia in a case of Cat eye syndrome
Ebru Aileen Alsat, Heiko Reutter, Soyhan Bagci, et al.
Haematologica
|
January 27, 2022
Occurrence of a paroxysmal nocturnal hemoglobinuria clone in an essential thrombocythemia: a link between <i>PIGV</i> and <i>MPL</i>
Alexej Knaus, François Vergez, Cédric Garcia, et al.
Human Mutation
|
April 5, 2014
Cantú syndrome resulting from activating mutation in the KCNJ8 gene
Paige E Cooper, Heiko Reutter, Joachim Woelfle, et al.
American Journal of Medical Genetics. Part A
|
July 9, 2011
Five patients with novel overlapping interstitial deletions in 8q22.2q22.3
Alma Kuechler, Karen Buysse, Jill Clayton-Smith, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology
|
December 19, 2015
Array-based molecular karyotyping in fetal brain malformations: Identification of novel candidate genes and chromosomal regions
Sophia K Krutzke, Hartmut Engels, Andrea Hofmann, et al.
European Journal of Human Genetics : EJHG
|
October 7, 2006
Towards mapping phenotypical traits in 18p- syndrome by array-based comparative genomic hybridisation and fluorescent in situ hybridisation
Christian H Brenk, Eva-Christina Prott, Detlef Trost, et al.
European Journal of Human Genetics : EJHG
|
July 21, 2016
De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth
Johanna Schäfgen, Kirsten Cremer, Jessica Becker, et al.
Human Molecular Genetics
|
May 5, 2007
Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4
Antje Brockschmidt, Unda Todt, Soojin Ryu, et al.
Human Genetics
|
April 5, 2013
Dissecting the genotype in syndromic intellectual disability using whole exome sequencing in addition to genome-wide copy number analysis
Carl Friedrich Classen, Vera Riehmer, Christina Landwehr, et al.
Page
of 8