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American Journal of Medical Genetics. Part A
|
December 25, 2015
Mild humoral immunodeficiency in a patient with X-linked Kabuki syndrome
Glynis Frans, Isabelle Meyts, Koen Devriendt, et al.
Annales De Genetique
|
April 6, 2002
Atypical presentation of the Prader-Willi syndrome. Mosaic trisomy 15?
Annick Vogels, Maureen Holvoet, Mie-Jef Descheemaeker, et al.
Clinical Dysmorphology
|
March 15, 2006
Two female siblings with congenital heart disease, postaxial polydactyly, ectopic neuropituitary gland, hair anomalies and characteristic facial features: a new syndrome?
Linde Goossens, Sandra Janssens, Valerie Meersschaut, et al.
European Journal of Pediatrics
|
March 21, 2007
What's new in karyotyping? The move towards array comparative genomic hybridisation (CGH)
Thomy J L de Ravel, Koen Devriendt, Jean-Pierre Fryns, et al.
American Journal of Medical Genetics. Part A
|
December 4, 2004
Iris heterochromia: a variable feature in Verloes-Koulischer-oral-acral syndrome
Inge B Mathijssen, Jean-Pierre Fryns, Koen Devriendt, et al.
European Journal of Human Genetics : EJHG
|
January 10, 2024
Expanding the phenotype of copy number variations involving NR0B1 (DAX1)
Nathalie Veyt, Griet Van Buggenhout, Koen Devriendt, et al.
Human Mutation
|
April 26, 2018
Novel CASK mutations in cases with syndromic microcephaly
Francesca Cristofoli, Koen Devriendt, Erica E Davis, et al.
International Journal of Pediatric Otorhinolaryngology
|
January 27, 2016
Congenital sternoclavicular dermoid sinus
Annelore Willaert, Liesje Bruninx, Greet Hens, et al.
Annales De Genetique
|
September 1, 2004
Chromosome 10p deletion in a patient with hypoparathyroidism, severe mental retardation, autism and basal ganglia calcifications
Annapia Verri, Paola Maraschio, Koen Devriendt, et al.
European Journal of Pediatrics
|
September 7, 2004
Velocardiofacial syndrome presenting as distal arthrogryposis
Koen Devriendt, Ann Swillen, Marc Gewillig, et al.
Page
of 19
Search research articles
Search
Showing results (21-30 of 183) with videos related to
Sort By:
Page
of 19
American Journal of Medical Genetics. Part A
|
December 25, 2015
Mild humoral immunodeficiency in a patient with X-linked Kabuki syndrome
Glynis Frans, Isabelle Meyts, Koen Devriendt, et al.
Annales De Genetique
|
April 6, 2002
Atypical presentation of the Prader-Willi syndrome. Mosaic trisomy 15?
Annick Vogels, Maureen Holvoet, Mie-Jef Descheemaeker, et al.
Clinical Dysmorphology
|
March 15, 2006
Two female siblings with congenital heart disease, postaxial polydactyly, ectopic neuropituitary gland, hair anomalies and characteristic facial features: a new syndrome?
Linde Goossens, Sandra Janssens, Valerie Meersschaut, et al.
European Journal of Pediatrics
|
March 21, 2007
What's new in karyotyping? The move towards array comparative genomic hybridisation (CGH)
Thomy J L de Ravel, Koen Devriendt, Jean-Pierre Fryns, et al.
American Journal of Medical Genetics. Part A
|
December 4, 2004
Iris heterochromia: a variable feature in Verloes-Koulischer-oral-acral syndrome
Inge B Mathijssen, Jean-Pierre Fryns, Koen Devriendt, et al.
European Journal of Human Genetics : EJHG
|
January 10, 2024
Expanding the phenotype of copy number variations involving NR0B1 (DAX1)
Nathalie Veyt, Griet Van Buggenhout, Koen Devriendt, et al.
Human Mutation
|
April 26, 2018
Novel CASK mutations in cases with syndromic microcephaly
Francesca Cristofoli, Koen Devriendt, Erica E Davis, et al.
International Journal of Pediatric Otorhinolaryngology
|
January 27, 2016
Congenital sternoclavicular dermoid sinus
Annelore Willaert, Liesje Bruninx, Greet Hens, et al.
Annales De Genetique
|
September 1, 2004
Chromosome 10p deletion in a patient with hypoparathyroidism, severe mental retardation, autism and basal ganglia calcifications
Annapia Verri, Paola Maraschio, Koen Devriendt, et al.
European Journal of Pediatrics
|
September 7, 2004
Velocardiofacial syndrome presenting as distal arthrogryposis
Koen Devriendt, Ann Swillen, Marc Gewillig, et al.
Page
of 19