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Orphanet Journal of Rare Diseases
|
April 17, 2014
Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome
Vanessa A van Rahden, Isabella Rau, Sigrid Fuchs, et al.
The Journal of Pediatrics
|
June 12, 2012
Molecular karyotyping as a relevant diagnostic tool in children with growth retardation with Silver-Russell features
Sabrina Spengler, Matthias Begemann, Nadina Ortiz Brüchle, et al.
European Journal of Human Genetics : EJHG
|
May 28, 2009
A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients
Hartmut Engels, Eva Wohlleber, Alexander Zink, et al.
Nature Genetics
|
May 18, 2010
Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation
Simone Berkel, Christian R Marshall, Birgit Weiss, et al.
American Journal of Medical Genetics. Part A
|
August 6, 2013
The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome?
Nicola Dikow, Bianca Maas, Harald Gaspar, et al.
Molecular Genetics and Metabolism
|
July 10, 2017
Impact of clinical exomes in neurodevelopmental and neurometabolic disorders
Christina Evers, Christian Staufner, Martin Granzow, et al.
American Journal of Medical Genetics. Part A
|
April 4, 2017
DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome
Nicola Dikow, Martin Granzow, Luitgard M Graul-Neumann, et al.
Journal of Medical Genetics
|
August 31, 2016
FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum
Miriam S Reuter, Angelika Riess, Ute Moog, et al.
British Journal of Haematology
|
February 3, 2012
A 15q24 microdeletion in transient myeloproliferative disease (TMD) and acute megakaryoblastic leukaemia (AMKL) implicates PML and SUMO3 in the leukaemogenesis of TMD/AMKL
Susanne Haemmerling, Wolfgang Behnisch, Tobias Doerks, et al.
Orphanet Journal of Rare Diseases
|
April 18, 2015
Phenotypic and molecular insights into CASK-related disorders in males
Ute Moog, Tatjana Bierhals, Kristina Brand, et al.
Page
of 8
Search research articles
Search
Showing results (51-60 of 79) with videos related to
Sort By:
Page
of 8
Orphanet Journal of Rare Diseases
|
April 17, 2014
Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome
Vanessa A van Rahden, Isabella Rau, Sigrid Fuchs, et al.
The Journal of Pediatrics
|
June 12, 2012
Molecular karyotyping as a relevant diagnostic tool in children with growth retardation with Silver-Russell features
Sabrina Spengler, Matthias Begemann, Nadina Ortiz Brüchle, et al.
European Journal of Human Genetics : EJHG
|
May 28, 2009
A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients
Hartmut Engels, Eva Wohlleber, Alexander Zink, et al.
Nature Genetics
|
May 18, 2010
Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation
Simone Berkel, Christian R Marshall, Birgit Weiss, et al.
American Journal of Medical Genetics. Part A
|
August 6, 2013
The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome?
Nicola Dikow, Bianca Maas, Harald Gaspar, et al.
Molecular Genetics and Metabolism
|
July 10, 2017
Impact of clinical exomes in neurodevelopmental and neurometabolic disorders
Christina Evers, Christian Staufner, Martin Granzow, et al.
American Journal of Medical Genetics. Part A
|
April 4, 2017
DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome
Nicola Dikow, Martin Granzow, Luitgard M Graul-Neumann, et al.
Journal of Medical Genetics
|
August 31, 2016
FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum
Miriam S Reuter, Angelika Riess, Ute Moog, et al.
British Journal of Haematology
|
February 3, 2012
A 15q24 microdeletion in transient myeloproliferative disease (TMD) and acute megakaryoblastic leukaemia (AMKL) implicates PML and SUMO3 in the leukaemogenesis of TMD/AMKL
Susanne Haemmerling, Wolfgang Behnisch, Tobias Doerks, et al.
Orphanet Journal of Rare Diseases
|
April 18, 2015
Phenotypic and molecular insights into CASK-related disorders in males
Ute Moog, Tatjana Bierhals, Kristina Brand, et al.
Page
of 8