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American Journal of Medical Genetics. Part A
|
January 19, 2008
Primary skeletal dysplasia as a major manifesting feature in an infant with congenital disorder of glycosylation type Ia
D Coman, D Bostock, M Hunter, et al.
The British Journal of Dermatology
|
December 29, 2015
Buschke-Ollendorff syndrome: a novel case series and systematic review
V Pope, L Dupuis, P Kannu, et al.
Clinical Genetics
|
June 21, 2018
IFT80 mutations cause a novel complex ciliopathy phenotype with retinal degeneration
J Moran, K G Sanderson, J Maynes, et al.
The British Journal of Dermatology
|
June 30, 2018
Genotype-phenotype data from a case series of patients with mosaic neurofibromatosis type 1
A Marwaha, J Malach, A Shugar, et al.
AJNR. American Journal of Neuroradiology
|
April 7, 2018
Characteristic MR Imaging Findings of the Neonatal Brain in RASopathies
M N Cizmeci, M Lequin, K D Lichtenbelt, et al.
Journal of Medical Genetics
|
November 19, 2008
Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice
D L Bruno, D Ganesamoorthy, J Schoumans, et al.
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of 2
Search research articles
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Showing results (11-20 of 16) with videos related to
Sort By:
Page
of 2
You have reached the last page of results.
This site can display upto 16 results.
American Journal of Medical Genetics. Part A
|
January 19, 2008
Primary skeletal dysplasia as a major manifesting feature in an infant with congenital disorder of glycosylation type Ia
D Coman, D Bostock, M Hunter, et al.
The British Journal of Dermatology
|
December 29, 2015
Buschke-Ollendorff syndrome: a novel case series and systematic review
V Pope, L Dupuis, P Kannu, et al.
Clinical Genetics
|
June 21, 2018
IFT80 mutations cause a novel complex ciliopathy phenotype with retinal degeneration
J Moran, K G Sanderson, J Maynes, et al.
The British Journal of Dermatology
|
June 30, 2018
Genotype-phenotype data from a case series of patients with mosaic neurofibromatosis type 1
A Marwaha, J Malach, A Shugar, et al.
AJNR. American Journal of Neuroradiology
|
April 7, 2018
Characteristic MR Imaging Findings of the Neonatal Brain in RASopathies
M N Cizmeci, M Lequin, K D Lichtenbelt, et al.
Journal of Medical Genetics
|
November 19, 2008
Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice
D L Bruno, D Ganesamoorthy, J Schoumans, et al.
Page
of 2