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International Journal of General Medicine
|
March 18, 2022
A Patient with Moderate Intellectual Disability and 49, XXXYY Karyotype
Willem M A Verhoeven, Jos I M Egger, Sandra Mergler, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 17, 2015
Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability
Rolph Pfundt, Kat Kwiatkowski, Alan Roter, et al.
Clinical Dysmorphology
|
November 28, 2012
Two patients with intellectual disability, overlapping facial features, and overlapping deletions in 6p25.1p24.3
Bart C W Kuipers, Anneke T Vulto-van Silfhout, Carlo Marcelis, et al.
Genome Research
|
April 19, 2015
The clustering of functionally related genes contributes to CNV-mediated disease
Tallulah Andrews, Frantisek Honti, Rolph Pfundt, et al.
American Journal of Medical Genetics. Part A
|
April 5, 2008
Transposition of the great vessels in a patient with a 2.9 Mb interstitial deletion of 9q31.1 encompassing the inversin gene: clinical report and review
Bregje W M van Bon, David A Koolen, Rolph Pfundt, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
June 11, 2014
Chromosomal aberrations in cerebral visual impairment
Daniëlle G M Bosch, F Nienke Boonstra, Margot R F Reijnders, et al.
Genes, Chromosomes & Cancer
|
April 19, 2005
Identification of androgen-responsive genes that are alternatively regulated in androgen-dependent and androgen-independent rat prostate tumors
Rolph Pfundt, Frank Smit, Corine Jansen, et al.
European Journal of Medical Genetics
|
March 24, 2009
14q12 Microdeletion syndrome and congenital variant of Rett syndrome
Maria Antonietta Mencarelli, Tjitske Kleefstra, Eleni Katzaki, et al.
Clinical Dysmorphology
|
September 6, 2007
Tall stature and minor facial dysmorphisms in a patient with a 17.5 Mb interstitial deletion of chromosome 13 (q14.3q21.33): clinical report and review
Bregje W M van Bon, David A Koolen, Ilse Feenstra, et al.
American Journal of Medical Genetics. Part A
|
June 18, 2019
Expanding the phenotype of intellectual disability caused by HIVEP2 variants
Heidi Goldsmith, Anna Wells, Maria J N Sá, et al.
Page
of 29
Search research articles
Search
Showing results (31-40 of 285) with videos related to
Sort By:
Page
of 29
International Journal of General Medicine
|
March 18, 2022
A Patient with Moderate Intellectual Disability and 49, XXXYY Karyotype
Willem M A Verhoeven, Jos I M Egger, Sandra Mergler, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 17, 2015
Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability
Rolph Pfundt, Kat Kwiatkowski, Alan Roter, et al.
Clinical Dysmorphology
|
November 28, 2012
Two patients with intellectual disability, overlapping facial features, and overlapping deletions in 6p25.1p24.3
Bart C W Kuipers, Anneke T Vulto-van Silfhout, Carlo Marcelis, et al.
Genome Research
|
April 19, 2015
The clustering of functionally related genes contributes to CNV-mediated disease
Tallulah Andrews, Frantisek Honti, Rolph Pfundt, et al.
American Journal of Medical Genetics. Part A
|
April 5, 2008
Transposition of the great vessels in a patient with a 2.9 Mb interstitial deletion of 9q31.1 encompassing the inversin gene: clinical report and review
Bregje W M van Bon, David A Koolen, Rolph Pfundt, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
June 11, 2014
Chromosomal aberrations in cerebral visual impairment
Daniëlle G M Bosch, F Nienke Boonstra, Margot R F Reijnders, et al.
Genes, Chromosomes & Cancer
|
April 19, 2005
Identification of androgen-responsive genes that are alternatively regulated in androgen-dependent and androgen-independent rat prostate tumors
Rolph Pfundt, Frank Smit, Corine Jansen, et al.
European Journal of Medical Genetics
|
March 24, 2009
14q12 Microdeletion syndrome and congenital variant of Rett syndrome
Maria Antonietta Mencarelli, Tjitske Kleefstra, Eleni Katzaki, et al.
Clinical Dysmorphology
|
September 6, 2007
Tall stature and minor facial dysmorphisms in a patient with a 17.5 Mb interstitial deletion of chromosome 13 (q14.3q21.33): clinical report and review
Bregje W M van Bon, David A Koolen, Ilse Feenstra, et al.
American Journal of Medical Genetics. Part A
|
June 18, 2019
Expanding the phenotype of intellectual disability caused by HIVEP2 variants
Heidi Goldsmith, Anna Wells, Maria J N Sá, et al.
Page
of 29