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American Journal of Medical Genetics. Part A
|
June 5, 2003
Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: clinical study and mutation analysis of the NXF5 gene
Suzanna G M Frints, Lin Jun, Jean-Pierre Fryns, et al.
American Journal of Human Genetics
|
December 9, 2004
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation
Lars Riff Jensen, Marion Amende, Ulf Gurok, et al.
Journal of Medical Genetics
|
October 23, 2009
Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis
Yvonne J Vos, Hermien E K de Walle, Krista K Bos, et al.
American Journal of Medical Genetics. Part A
|
November 24, 2004
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations
Joyce So, Vanessa Suckow, Zofia Kijas, et al.
American Journal of Human Genetics
|
February 9, 2010
Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome
Zafar Iqbal, Pilar Cejudo-Martin, Arjan de Brouwer, et al.
European Journal of Human Genetics : EJHG
|
April 10, 2008
MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression
Suzanna Gerarda Maria Frints, Steffen Lenzner, Mareike Bauters, et al.
Nature Genetics
|
November 29, 2005
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)
Martin Zenker, Julia Mayerle, Markus M Lerch, et al.
The Journal of Experimental Medicine
|
January 9, 2020
Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome
Yin-Huai Chen, Giedre Grigelioniene, Phillip T Newton, et al.
Human Mutation
|
March 25, 2009
PORCN mutations in focal dermal hypoplasia: coping with lethality
Dorothea Bornholdt, Frank Oeffner, Arne König, et al.
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Showing results (21-30 of 29) with videos related to
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This site can display upto 29 results.
American Journal of Medical Genetics. Part A
|
June 5, 2003
Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: clinical study and mutation analysis of the NXF5 gene
Suzanna G M Frints, Lin Jun, Jean-Pierre Fryns, et al.
American Journal of Human Genetics
|
December 9, 2004
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation
Lars Riff Jensen, Marion Amende, Ulf Gurok, et al.
Journal of Medical Genetics
|
October 23, 2009
Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis
Yvonne J Vos, Hermien E K de Walle, Krista K Bos, et al.
American Journal of Medical Genetics. Part A
|
November 24, 2004
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations
Joyce So, Vanessa Suckow, Zofia Kijas, et al.
American Journal of Human Genetics
|
February 9, 2010
Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome
Zafar Iqbal, Pilar Cejudo-Martin, Arjan de Brouwer, et al.
European Journal of Human Genetics : EJHG
|
April 10, 2008
MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression
Suzanna Gerarda Maria Frints, Steffen Lenzner, Mareike Bauters, et al.
Nature Genetics
|
November 29, 2005
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)
Martin Zenker, Julia Mayerle, Markus M Lerch, et al.
The Journal of Experimental Medicine
|
January 9, 2020
Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome
Yin-Huai Chen, Giedre Grigelioniene, Phillip T Newton, et al.
Human Mutation
|
March 25, 2009
PORCN mutations in focal dermal hypoplasia: coping with lethality
Dorothea Bornholdt, Frank Oeffner, Arne König, et al.
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of 3