Search research articles
Contact Us
Filters
Showing results (41-50 of 228) with videos related to
Page
of 23
Sort By:
Ophthalmic Genetics
|
August 2, 2018
Congenital stationary night blindness associated with morning glory disc malformation: a novel hemizygous mutation in CACNA1F
Ehab Abdelkader, Sara AlHilali, Christine Neuhaus, et al.
Pediatrics
|
May 21, 2014
Eculizumab as first-line therapy for atypical hemolytic uremic syndrome
Martin Christmann, Matthias Hansen, Carsten Bergmann, et al.
Journal of Human Genetics
|
August 10, 2006
Functional analysis of PKHD1 splicing in autosomal recessive polycystic kidney disease
Carsten Bergmann, Valeska Frank, Fabian Küpper, et al.
American Journal of Medical Genetics. Part A
|
December 23, 2017
Severe rhizomelic shortening in a child with a complex duplication/deletion rearrangement of chromosome X
Ashish R Deshwar, Lucie Dupuis, Carsten Bergmann, et al.
Ophthalmic Genetics
|
February 9, 2016
C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies
Arif O Khan, Eva Decker, Nadine Bachmann, et al.
Ophthalmic Genetics
|
October 6, 2018
Novel causative variants in patients with achromatopsia
Ehab Abdelkader, Oliver Brandau, Carsten Bergmann, et al.
American Journal of Medical Genetics. Part A
|
January 6, 2005
Rare proximal interstitial deletion of chromosome 4q, del(4)(q13.2q21.22): New case and comparison with the literature
Katja Eggermann, Carsten Bergmann, Inge Heil, et al.
Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis
|
February 21, 2012
Novel mutation in the glycoprotein Ibβ in a patient with Bernard-Soulier syndrome: possibility of distant parental consanguinity
Rami A Mahfouz, Hanno J Bolz, Zaher K Otrock, et al.
The Journal of Biological Chemistry
|
December 21, 2002
Transforming growth factor-beta 1 mutations in Camurati-Engelmann disease lead to increased signaling by altering either activation or secretion of the mutant protein
Katrien Janssens, Peter ten Dijke, Stuart H Ralston, et al.
American Journal of Medical Genetics. Part A
|
August 12, 2003
Overlap between VACTERL and hemifacial microsomia illustrating a spectrum of malformations seen in axial mesodermal dysplasia complex (AMDC)
Carsten Bergmann, Klaus Zerres, Thomas Peschgens, et al.
Page
of 23
Search research articles
Search
Showing results (41-50 of 228) with videos related to
Sort By:
Page
of 23
Ophthalmic Genetics
|
August 2, 2018
Congenital stationary night blindness associated with morning glory disc malformation: a novel hemizygous mutation in CACNA1F
Ehab Abdelkader, Sara AlHilali, Christine Neuhaus, et al.
Pediatrics
|
May 21, 2014
Eculizumab as first-line therapy for atypical hemolytic uremic syndrome
Martin Christmann, Matthias Hansen, Carsten Bergmann, et al.
Journal of Human Genetics
|
August 10, 2006
Functional analysis of PKHD1 splicing in autosomal recessive polycystic kidney disease
Carsten Bergmann, Valeska Frank, Fabian Küpper, et al.
American Journal of Medical Genetics. Part A
|
December 23, 2017
Severe rhizomelic shortening in a child with a complex duplication/deletion rearrangement of chromosome X
Ashish R Deshwar, Lucie Dupuis, Carsten Bergmann, et al.
Ophthalmic Genetics
|
February 9, 2016
C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies
Arif O Khan, Eva Decker, Nadine Bachmann, et al.
Ophthalmic Genetics
|
October 6, 2018
Novel causative variants in patients with achromatopsia
Ehab Abdelkader, Oliver Brandau, Carsten Bergmann, et al.
American Journal of Medical Genetics. Part A
|
January 6, 2005
Rare proximal interstitial deletion of chromosome 4q, del(4)(q13.2q21.22): New case and comparison with the literature
Katja Eggermann, Carsten Bergmann, Inge Heil, et al.
Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis
|
February 21, 2012
Novel mutation in the glycoprotein Ibβ in a patient with Bernard-Soulier syndrome: possibility of distant parental consanguinity
Rami A Mahfouz, Hanno J Bolz, Zaher K Otrock, et al.
The Journal of Biological Chemistry
|
December 21, 2002
Transforming growth factor-beta 1 mutations in Camurati-Engelmann disease lead to increased signaling by altering either activation or secretion of the mutant protein
Katrien Janssens, Peter ten Dijke, Stuart H Ralston, et al.
American Journal of Medical Genetics. Part A
|
August 12, 2003
Overlap between VACTERL and hemifacial microsomia illustrating a spectrum of malformations seen in axial mesodermal dysplasia complex (AMDC)
Carsten Bergmann, Klaus Zerres, Thomas Peschgens, et al.
Page
of 23