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American Journal of Medical Genetics. Part A
|
January 18, 2006
A family with features overlapping Okihiro syndrome, hemifacial microsomia and isolated Duane anomaly caused by a novel SALL4 mutation
Paulien Terhal, Bernd Rösler, Jürgen Kohlhase
Biochemical and Biophysical Research Communications
|
August 11, 2006
SALL4 is directly activated by TCF/LEF in the canonical Wnt signaling pathway
Johann Böhm, Claudio Sustmann, Christian Wilhelm, et al.
American Journal of Medical Genetics. Part A
|
August 8, 2006
SALL1 mutations in sporadic Townes-Brocks syndrome are of predominantly paternal origin without obvious paternal age effect
Johann Böhm, Susanne Munk-Schulenburg, Stephanie Felscher, et al.
American Journal of Medical Genetics. Part A
|
October 3, 2007
Kidney failure in Townes-Brocks syndrome: an under recognized phenomenon?
William Reardon, Liam F Casserly, Ralf Birkenhäger, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society
|
April 15, 2015
Stüve-Wiedemann syndrome in a neonate
Kosmas Sarafidis, Kaliopi Piretzi, Eleni Agakidou, et al.
American Journal of Medical Genetics. Part A
|
July 17, 2010
Arterial rupture in classic Ehlers-Danlos syndrome with COL5A1 mutation
Guntram Borck, Peter Beighton, Christian Wilhelm, et al.
The Journal of Investigative Dermatology
|
February 18, 2006
Expanding the COL7A1 mutation database: novel and recurrent mutations and unusual genotype-phenotype constellations in 41 patients with dystrophic epidermolysis bullosa
Johannes S Kern, Jürgen Kohlhase, Leena Bruckner-Tuderman, et al.
Biochemical and Biophysical Research Communications
|
August 30, 2002
Interaction of the developmental regulator SALL1 with UBE2I and SUMO-1
Christian Netzer, Stefan K Bohlander, Leonie Rieger, et al.
Head & Face Medicine
|
February 10, 2019
Multidisciplinary oral rehabilitation of an adolescent suffering from juvenile Gorlin-Goltz syndrome - a case report
Manfred Nilius, Jürgen Kohlhase, Johann Lorenzen, et al.
Biochimica Et Biophysica Acta
|
January 31, 2006
Defining the heterochromatin localization and repression domains of SALL1
Christian Netzer, Stefan K Bohlander, Markus Hinzke, et al.
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of 8
Search research articles
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Showing results (1-10 of 79) with videos related to
Sort By:
Page
of 8
American Journal of Medical Genetics. Part A
|
January 18, 2006
A family with features overlapping Okihiro syndrome, hemifacial microsomia and isolated Duane anomaly caused by a novel SALL4 mutation
Paulien Terhal, Bernd Rösler, Jürgen Kohlhase
Biochemical and Biophysical Research Communications
|
August 11, 2006
SALL4 is directly activated by TCF/LEF in the canonical Wnt signaling pathway
Johann Böhm, Claudio Sustmann, Christian Wilhelm, et al.
American Journal of Medical Genetics. Part A
|
August 8, 2006
SALL1 mutations in sporadic Townes-Brocks syndrome are of predominantly paternal origin without obvious paternal age effect
Johann Böhm, Susanne Munk-Schulenburg, Stephanie Felscher, et al.
American Journal of Medical Genetics. Part A
|
October 3, 2007
Kidney failure in Townes-Brocks syndrome: an under recognized phenomenon?
William Reardon, Liam F Casserly, Ralf Birkenhäger, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society
|
April 15, 2015
Stüve-Wiedemann syndrome in a neonate
Kosmas Sarafidis, Kaliopi Piretzi, Eleni Agakidou, et al.
American Journal of Medical Genetics. Part A
|
July 17, 2010
Arterial rupture in classic Ehlers-Danlos syndrome with COL5A1 mutation
Guntram Borck, Peter Beighton, Christian Wilhelm, et al.
The Journal of Investigative Dermatology
|
February 18, 2006
Expanding the COL7A1 mutation database: novel and recurrent mutations and unusual genotype-phenotype constellations in 41 patients with dystrophic epidermolysis bullosa
Johannes S Kern, Jürgen Kohlhase, Leena Bruckner-Tuderman, et al.
Biochemical and Biophysical Research Communications
|
August 30, 2002
Interaction of the developmental regulator SALL1 with UBE2I and SUMO-1
Christian Netzer, Stefan K Bohlander, Leonie Rieger, et al.
Head & Face Medicine
|
February 10, 2019
Multidisciplinary oral rehabilitation of an adolescent suffering from juvenile Gorlin-Goltz syndrome - a case report
Manfred Nilius, Jürgen Kohlhase, Johann Lorenzen, et al.
Biochimica Et Biophysica Acta
|
January 31, 2006
Defining the heterochromatin localization and repression domains of SALL1
Christian Netzer, Stefan K Bohlander, Markus Hinzke, et al.
Page
of 8