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Clinical Dysmorphology
|
October 29, 2002
VATER--tibia aplasia association: report on two patients
Liesbeth Spruijt, Koen Devriendt, Jos Offermans, et al.
American Journal of Medical Genetics
|
September 5, 2002
Somatic mosaicism and variable expression of Townes-Brocks syndrome
Koen Devriendt, Jean-Pierre Fryns, Francis Lemmens, et al.
Clinical Orthopaedics and Related Research
|
May 31, 2007
Novel TBX5 mutations in patients with Holt-Oram syndrome
Philippe Debeer, Valerie Race, Marc Gewillig, et al.
American Journal of Medical Genetics. Part A
|
August 21, 2007
A microduplication of CBP in a patient with mental retardation and a congenital heart defect
Bernard Thienpont, Jeroen Breckpot, Maureen Holvoet, et al.
European Journal of Medical Genetics
|
March 6, 2007
Left-ventricular non-compaction in a patient with monosomy 1p36
Bernard Thienpont, Luc Mertens, Gunnar Buyse, et al.
European Journal of Medical Genetics
|
February 20, 2008
A complex submicroscopic chromosomal imbalance in 19p13.11 with one microduplication and two microtriplications
Bernard Thienpont, Jeroen Breckpot, Joris R Vermeesch, et al.
Human Mutation
|
July 12, 2002
Progressive AV-block and anomalous venous return among cardiac anomalies associated with two novel missense mutations in the CSX/NKX2-5 gene
Ilse Gutierrez-Roelens, Thierry Sluysmans, Marc Gewillig, et al.
European Journal of Human Genetics : EJHG
|
October 16, 2008
Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4
Liesbeth Backx, Berten Ceulemans, Joris Robert Vermeesch, et al.
Cold Spring Harbor Molecular Case Studies
|
July 7, 2017
<i>SPG20</i> mutation in three siblings with familial hereditary spastic paraplegia
Leila Dardour, Filip Roelens, Valerie Race, et al.
Pediatric Nephrology (Berlin, Germany)
|
May 16, 2024
Antenatal presentation and early postnatal treatment of infantile hypercalcemia type 2
Marcelien Verjans, An Hindryckx, Karen Rosier, et al.
Page
of 19
Search research articles
Search
Showing results (11-20 of 183) with videos related to
Sort By:
Page
of 19
Clinical Dysmorphology
|
October 29, 2002
VATER--tibia aplasia association: report on two patients
Liesbeth Spruijt, Koen Devriendt, Jos Offermans, et al.
American Journal of Medical Genetics
|
September 5, 2002
Somatic mosaicism and variable expression of Townes-Brocks syndrome
Koen Devriendt, Jean-Pierre Fryns, Francis Lemmens, et al.
Clinical Orthopaedics and Related Research
|
May 31, 2007
Novel TBX5 mutations in patients with Holt-Oram syndrome
Philippe Debeer, Valerie Race, Marc Gewillig, et al.
American Journal of Medical Genetics. Part A
|
August 21, 2007
A microduplication of CBP in a patient with mental retardation and a congenital heart defect
Bernard Thienpont, Jeroen Breckpot, Maureen Holvoet, et al.
European Journal of Medical Genetics
|
March 6, 2007
Left-ventricular non-compaction in a patient with monosomy 1p36
Bernard Thienpont, Luc Mertens, Gunnar Buyse, et al.
European Journal of Medical Genetics
|
February 20, 2008
A complex submicroscopic chromosomal imbalance in 19p13.11 with one microduplication and two microtriplications
Bernard Thienpont, Jeroen Breckpot, Joris R Vermeesch, et al.
Human Mutation
|
July 12, 2002
Progressive AV-block and anomalous venous return among cardiac anomalies associated with two novel missense mutations in the CSX/NKX2-5 gene
Ilse Gutierrez-Roelens, Thierry Sluysmans, Marc Gewillig, et al.
European Journal of Human Genetics : EJHG
|
October 16, 2008
Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4
Liesbeth Backx, Berten Ceulemans, Joris Robert Vermeesch, et al.
Cold Spring Harbor Molecular Case Studies
|
July 7, 2017
<i>SPG20</i> mutation in three siblings with familial hereditary spastic paraplegia
Leila Dardour, Filip Roelens, Valerie Race, et al.
Pediatric Nephrology (Berlin, Germany)
|
May 16, 2024
Antenatal presentation and early postnatal treatment of infantile hypercalcemia type 2
Marcelien Verjans, An Hindryckx, Karen Rosier, et al.
Page
of 19