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Human Mutation
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January 5, 2007
ZFHX1B mutations in patients with Mowat-Wilson syndrome
Florence Dastot-Le Moal, Meredith Wilson, David Mowat, et al.
American Journal of Medical Genetics. Part A
|
November 23, 2007
The clinical phenotype of mosaicism for genome-wide paternal uniparental disomy: two new reports
Meredith Wilson, Gregory Peters, Bruce Bennetts, et al.
Journal of Paediatrics and Child Health
|
February 20, 2014
CHARGE syndrome: a review
Peter Hsu, Alan Ma, Meredith Wilson, et al.
American Journal of Medical Genetics. Part A
|
August 10, 2005
Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation
Julie McGaughran, Stephen Sinnott, Florence Dastot-Le Moal, et al.
Human Genetics
|
November 27, 2004
Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome
Weimin Bi, G Mustafa Saifi, Christine J Shaw, et al.
Thrombosis and Haemostasis
|
December 8, 2007
Heterozygous loss of platelet glycoprotein (GP) Ib-V-IX variably affects platelet function in velocardiofacial syndrome (VCFS) patients
Hai Po Helena Liang, Marie-Christine Morel-Kopp, Julie Curtin, et al.
The Journal of Pediatrics
|
November 4, 2011
Recombinant parathyroid hormone therapy for severe neonatal hypoparathyroidism
Yoon Hi Cho, Michel Tchan, Bithi Roy, et al.
Comprehensive Psychiatry
|
October 15, 2017
Quality of life and burden in caregivers of youth with obsessive-compulsive disorder presenting for intensive treatment
Monica S Wu, Rebecca Hamblin, Joshua Nadeau, et al.
The Journal of Allergy and Clinical Immunology. in Practice
|
November 14, 2015
The Immune Phenotype of Patients with CHARGE Syndrome
Peter Hsu, Alan Ma, Elizabeth H Barnes, et al.
International Journal of Molecular Sciences
|
June 2, 2021
The Role of ZEB2 in Human CD8 T Lymphocytes: Clinical and Cellular Immune Profiling in Mowat-Wilson Syndrome
Katie Frith, C Mee Ling Munier, Lucy Hastings, et al.
Page
of 7
Search research articles
Search
Showing results (11-20 of 68) with videos related to
Sort By:
Page
of 7
Human Mutation
|
January 5, 2007
ZFHX1B mutations in patients with Mowat-Wilson syndrome
Florence Dastot-Le Moal, Meredith Wilson, David Mowat, et al.
American Journal of Medical Genetics. Part A
|
November 23, 2007
The clinical phenotype of mosaicism for genome-wide paternal uniparental disomy: two new reports
Meredith Wilson, Gregory Peters, Bruce Bennetts, et al.
Journal of Paediatrics and Child Health
|
February 20, 2014
CHARGE syndrome: a review
Peter Hsu, Alan Ma, Meredith Wilson, et al.
American Journal of Medical Genetics. Part A
|
August 10, 2005
Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation
Julie McGaughran, Stephen Sinnott, Florence Dastot-Le Moal, et al.
Human Genetics
|
November 27, 2004
Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome
Weimin Bi, G Mustafa Saifi, Christine J Shaw, et al.
Thrombosis and Haemostasis
|
December 8, 2007
Heterozygous loss of platelet glycoprotein (GP) Ib-V-IX variably affects platelet function in velocardiofacial syndrome (VCFS) patients
Hai Po Helena Liang, Marie-Christine Morel-Kopp, Julie Curtin, et al.
The Journal of Pediatrics
|
November 4, 2011
Recombinant parathyroid hormone therapy for severe neonatal hypoparathyroidism
Yoon Hi Cho, Michel Tchan, Bithi Roy, et al.
Comprehensive Psychiatry
|
October 15, 2017
Quality of life and burden in caregivers of youth with obsessive-compulsive disorder presenting for intensive treatment
Monica S Wu, Rebecca Hamblin, Joshua Nadeau, et al.
The Journal of Allergy and Clinical Immunology. in Practice
|
November 14, 2015
The Immune Phenotype of Patients with CHARGE Syndrome
Peter Hsu, Alan Ma, Elizabeth H Barnes, et al.
International Journal of Molecular Sciences
|
June 2, 2021
The Role of ZEB2 in Human CD8 T Lymphocytes: Clinical and Cellular Immune Profiling in Mowat-Wilson Syndrome
Katie Frith, C Mee Ling Munier, Lucy Hastings, et al.
Page
of 7