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American Journal of Human Genetics
|
August 10, 2010
Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome
Francesco Brancati, Paola Fortugno, Irene Bottillo, et al.
Development (Cambridge, England)
|
March 21, 2008
The mutation ROR2W749X, linked to human BDB, is a recessive mutation in the mouse, causing brachydactyly, mediating patterning of joints and modeling recessive Robinow syndrome
Regina Raz, Sigmar Stricker, Elizabetta Gazzerro, et al.
Human Molecular Genetics
|
February 26, 2015
Molecular mechanism of CHRDL1-mediated X-linked megalocornea in humans and in Xenopus model
Thorsten Pfirrmann, Denise Emmerich, Peter Ruokonen, et al.
Nature Communications
|
November 1, 2017
Odd skipped-related 1 identifies a population of embryonic fibro-adipogenic progenitors regulating myogenesis during limb development
Pedro Vallecillo-García, Mickael Orgeur, Sophie Vom Hofe-Schneider, et al.
Nucleus (Austin, Tex.)
|
February 18, 2011
Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein
Peter Clayton, Björn Fischer, Anuska Mann, et al.
Pathogenetics
|
February 26, 2010
A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C
Lars R Jensen, Heinz Bartenschlager, Sinitdhorn Rujirabanjerd, et al.
American Journal of Human Genetics
|
December 21, 2010
Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis
Eva Klopocki, Silke Lohan, Francesco Brancati, et al.
Plos Biology
|
November 17, 2020
Local retinoic acid signaling directs emergence of the extraocular muscle functional unit
Glenda Evangelina Comai, Markéta Tesařová, Valérie Dupé, et al.
Plos Genetics
|
December 4, 2009
Mutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGIN
Petra Seemann, Anja Brehm, Jana König, et al.
American Journal of Human Genetics
|
February 7, 2008
Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders
Anne Michalk, Sigmar Stricker, Jutta Becker, et al.
Page
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Search research articles
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Showing results (61-70 of 79) with videos related to
Sort By:
Page
of 8
American Journal of Human Genetics
|
August 10, 2010
Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome
Francesco Brancati, Paola Fortugno, Irene Bottillo, et al.
Development (Cambridge, England)
|
March 21, 2008
The mutation ROR2W749X, linked to human BDB, is a recessive mutation in the mouse, causing brachydactyly, mediating patterning of joints and modeling recessive Robinow syndrome
Regina Raz, Sigmar Stricker, Elizabetta Gazzerro, et al.
Human Molecular Genetics
|
February 26, 2015
Molecular mechanism of CHRDL1-mediated X-linked megalocornea in humans and in Xenopus model
Thorsten Pfirrmann, Denise Emmerich, Peter Ruokonen, et al.
Nature Communications
|
November 1, 2017
Odd skipped-related 1 identifies a population of embryonic fibro-adipogenic progenitors regulating myogenesis during limb development
Pedro Vallecillo-García, Mickael Orgeur, Sophie Vom Hofe-Schneider, et al.
Nucleus (Austin, Tex.)
|
February 18, 2011
Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein
Peter Clayton, Björn Fischer, Anuska Mann, et al.
Pathogenetics
|
February 26, 2010
A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C
Lars R Jensen, Heinz Bartenschlager, Sinitdhorn Rujirabanjerd, et al.
American Journal of Human Genetics
|
December 21, 2010
Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis
Eva Klopocki, Silke Lohan, Francesco Brancati, et al.
Plos Biology
|
November 17, 2020
Local retinoic acid signaling directs emergence of the extraocular muscle functional unit
Glenda Evangelina Comai, Markéta Tesařová, Valérie Dupé, et al.
Plos Genetics
|
December 4, 2009
Mutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGIN
Petra Seemann, Anja Brehm, Jana König, et al.
American Journal of Human Genetics
|
February 7, 2008
Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders
Anne Michalk, Sigmar Stricker, Jutta Becker, et al.
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of 8