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American Journal of Medical Genetics. Part A
|
January 19, 2010
Haploinsufficiency of the gene Quaking (QKI) is associated with the 6q terminal deletion syndrome
Liesbeth Backx, Jean-Pierre Fryns, Carlo Marcelis, et al.
American Journal of Medical Genetics
|
March 29, 2002
Mosaic trisomy 8 as a cause of velopharyngeal insufficiency
Greet Vantrappen, Nathalie Rommel, Cor W R J Cremers, et al.
Clinical Dysmorphology
|
February 19, 2021
Homozygous missense STRADA mutation in a patient with polyhydramnios, megalencephaly and symptomatic epilepsy syndrome
Mio Aerden, Lore Vallaeys, Maureen Holvoet, et al.
American Journal of Medical Genetics. Part A
|
March 1, 2005
Carpal and tarsal synostoses and transverse reduction defects of the toes in two brothers heterozygous for a double de novo NOGGIN mutation
Philippe Debeer, Christel Huysmans, Wim J M Van de Ven, et al.
Autism : the International Journal of Research and Practice
|
May 29, 2004
Chromosomal anomalies in individuals with autism: a strategy towards the identification of genes involved in autism
Dries Castermans, Valérie Wilquet, Jean Steyaert, et al.
American Journal of Medical Genetics
|
March 29, 2002
Glypican 1 gene: good candidate for brachydactyly type E
Maria Syrrou, Katelÿne Keymolen, Koen Devriendt, et al.
European Journal of Medical Genetics
|
March 15, 2006
Focal preauricular dermal dysplasia: distinctive congenital lesions with a bilateral and symmetric distribution
Trine Prescott, Koen Devriendt, Ben Hamel, et al.
Journal of Hepatology
|
February 29, 2020
Two cases of non-alcoholic fatty liver disease caused by biallelic ABHD5 mutations
Isabelle Adant, Mathias Declercq, Matthew Bird, et al.
European Journal of Medical Genetics
|
February 24, 2009
Early detection of chromosome 9q22.32q31.1 microdeletion and the nevoid basal cell carcinoma syndrome
Thomy J L de Ravel, Liliane Ameye, Katleen Ballon, et al.
European Journal of Pediatrics
|
September 16, 2011
Hydrops fetalis and pulmonary lymphangiectasia due to FOXC2 mutation: an autosomal dominant hereditary lymphedema syndrome with variable expression
Gwendolyn de Bruyn, Alexandra Casaer, Katrien Devolder, et al.
Page
of 19
Search research articles
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Showing results (31-40 of 183) with videos related to
Sort By:
Page
of 19
American Journal of Medical Genetics. Part A
|
January 19, 2010
Haploinsufficiency of the gene Quaking (QKI) is associated with the 6q terminal deletion syndrome
Liesbeth Backx, Jean-Pierre Fryns, Carlo Marcelis, et al.
American Journal of Medical Genetics
|
March 29, 2002
Mosaic trisomy 8 as a cause of velopharyngeal insufficiency
Greet Vantrappen, Nathalie Rommel, Cor W R J Cremers, et al.
Clinical Dysmorphology
|
February 19, 2021
Homozygous missense STRADA mutation in a patient with polyhydramnios, megalencephaly and symptomatic epilepsy syndrome
Mio Aerden, Lore Vallaeys, Maureen Holvoet, et al.
American Journal of Medical Genetics. Part A
|
March 1, 2005
Carpal and tarsal synostoses and transverse reduction defects of the toes in two brothers heterozygous for a double de novo NOGGIN mutation
Philippe Debeer, Christel Huysmans, Wim J M Van de Ven, et al.
Autism : the International Journal of Research and Practice
|
May 29, 2004
Chromosomal anomalies in individuals with autism: a strategy towards the identification of genes involved in autism
Dries Castermans, Valérie Wilquet, Jean Steyaert, et al.
American Journal of Medical Genetics
|
March 29, 2002
Glypican 1 gene: good candidate for brachydactyly type E
Maria Syrrou, Katelÿne Keymolen, Koen Devriendt, et al.
European Journal of Medical Genetics
|
March 15, 2006
Focal preauricular dermal dysplasia: distinctive congenital lesions with a bilateral and symmetric distribution
Trine Prescott, Koen Devriendt, Ben Hamel, et al.
Journal of Hepatology
|
February 29, 2020
Two cases of non-alcoholic fatty liver disease caused by biallelic ABHD5 mutations
Isabelle Adant, Mathias Declercq, Matthew Bird, et al.
European Journal of Medical Genetics
|
February 24, 2009
Early detection of chromosome 9q22.32q31.1 microdeletion and the nevoid basal cell carcinoma syndrome
Thomy J L de Ravel, Liliane Ameye, Katleen Ballon, et al.
European Journal of Pediatrics
|
September 16, 2011
Hydrops fetalis and pulmonary lymphangiectasia due to FOXC2 mutation: an autosomal dominant hereditary lymphedema syndrome with variable expression
Gwendolyn de Bruyn, Alexandra Casaer, Katrien Devolder, et al.
Page
of 19