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Gail E Graham

Showing results (21-30 of 46) with videos related to

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American Journal of Medical Genetics. Part A|January 22, 2020
Tatton-Brown-Rahman syndrome: Six individuals with novel featuresTugce B Balci, Alana Strong, Jennifer M Kalish, et al.
American Journal of Medical Genetics. Part A|August 31, 2018
Diagnostic clarity of exome sequencing following negative comprehensive panel testing in the neonatal intensive care unitKristin D Kernohan, Taila Hartley, Sergey Naumenko, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 3, 2019
Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive conditionMarta Unolt, Molka Kammoun, Beata Nowakowska, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 10, 2022
Use of eConsult to enhance genetics service delivery in primary care: A multimethod studyJune C Carroll, Clare Liddy, Amir Afkham, et al.
Canadian Family Physician Medecin De Famille Canadien|January 24, 2013
Maternal age-based prenatal screening for chromosomal disorders: attitudes of women and health care providers toward changesJune C Carroll, Andrea Rideout, Brenda J Wilson, et al.
American Journal of Medical Genetics. Part A|April 28, 2015
An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequencesKaren W Gripp, Katia Sol-Church, Patroula Smpokou, et al.
Journal of Medical Genetics|April 8, 2014
Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasiaAmanda C Smith, Alan J Mears, Ryan Bunker, et al.
Human Mutation|May 13, 2008
Genotype-phenotype correlations in MYCN-related Feingold syndromeCarlo L M Marcelis, Frans A Hol, Gail E Graham, et al.
European Journal of Human Genetics : EJHG|June 2, 2011
17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD)Christine M Armour, Dennis E Bulman, Olga Jarinova, et al.
Canadian Family Physician Medecin De Famille Canadien|December 17, 2009
Genetic education for primary care providers: improving attitudes, knowledge, and confidenceJune C Carroll, Andrea L Rideout, Brenda J Wilson, et al.
Pageof 5

Showing results (21-30 of 46) with videos related to

Sort By:
Pageof 5
American Journal of Medical Genetics. Part A|January 22, 2020
Tatton-Brown-Rahman syndrome: Six individuals with novel featuresTugce B Balci, Alana Strong, Jennifer M Kalish, et al.
American Journal of Medical Genetics. Part A|August 31, 2018
Diagnostic clarity of exome sequencing following negative comprehensive panel testing in the neonatal intensive care unitKristin D Kernohan, Taila Hartley, Sergey Naumenko, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 3, 2019
Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive conditionMarta Unolt, Molka Kammoun, Beata Nowakowska, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 10, 2022
Use of eConsult to enhance genetics service delivery in primary care: A multimethod studyJune C Carroll, Clare Liddy, Amir Afkham, et al.
Canadian Family Physician Medecin De Famille Canadien|January 24, 2013
Maternal age-based prenatal screening for chromosomal disorders: attitudes of women and health care providers toward changesJune C Carroll, Andrea Rideout, Brenda J Wilson, et al.
American Journal of Medical Genetics. Part A|April 28, 2015
An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequencesKaren W Gripp, Katia Sol-Church, Patroula Smpokou, et al.
Journal of Medical Genetics|April 8, 2014
Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasiaAmanda C Smith, Alan J Mears, Ryan Bunker, et al.
Human Mutation|May 13, 2008
Genotype-phenotype correlations in MYCN-related Feingold syndromeCarlo L M Marcelis, Frans A Hol, Gail E Graham, et al.
European Journal of Human Genetics : EJHG|June 2, 2011
17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD)Christine M Armour, Dennis E Bulman, Olga Jarinova, et al.
Canadian Family Physician Medecin De Famille Canadien|December 17, 2009
Genetic education for primary care providers: improving attitudes, knowledge, and confidenceJune C Carroll, Andrea L Rideout, Brenda J Wilson, et al.
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