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September 29, 2016
A novel homozygous variant in SERPINH1 associated with a severe, lethal presentation of osteogenesis imperfecta with hydranencephaly
Charlotte Marshall, Jaime Lopez, Laura Crookes, et al.
American Journal of Medical Genetics. Part A
|
August 24, 2016
Diagnostic conundrums in antenatal presentation of a skeletal dysplasia with description of a heterozygous C-propeptide mutation in COL1A1 associated with a severe presentation of osteogenesis imperfecta
Charlotte J Marshall, Paul Arundel, Talat Mushtaq, et al.
Journal of Medical Genetics
|
December 22, 2017
<i>P4HB</i> recurrent missense mutation causing Cole-Carpenter syndrome
Meena Balasubramanian, Raja Padidela, Rebecca C Pollitt, et al.
American Journal of Medical Genetics. Part A
|
January 22, 2015
CRTAP mutation in a patient with Cole-Carpenter syndrome
Meena Balasubramanian, Rebecca C Pollitt, Kate E Chandler, et al.
American Journal of Medical Genetics. Part A
|
December 7, 2013
Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations
Anthony M Vandersteen, Allan M Lund, David J P Ferguson, et al.
American Journal of Medical Genetics. Part A
|
May 9, 2018
Novel PLS3 variants in X-linked osteoporosis: Exploring bone material properties
Meena Balasubramanian, Nadja Fratzl-Zelman, Rory O'Sullivan, et al.
American Journal of Medical Genetics. Part A
|
April 8, 2015
Clinical, structural, biochemical and X-ray crystallographic correlates of pathogenicity for variants in the C-propeptide region of the COL3A1 gene
Natasha S Stembridge, Anthony M Vandersteen, Neeti Ghali, et al.
American Journal of Medical Genetics. Part A
|
September 1, 2016
Phenotypic variability in patients with osteogenesis imperfecta caused by BMP1 mutations
Rebecca C Pollitt, Vrinda Saraff, Ann Dalton, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 16, 2017
A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history
Cecilia Giunta, Matthias Baumann, Christine Fauth, et al.
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Search research articles
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Showing results (1-10 of 9) with videos related to
Sort By:
Page
of 1
Gene
|
September 29, 2016
A novel homozygous variant in SERPINH1 associated with a severe, lethal presentation of osteogenesis imperfecta with hydranencephaly
Charlotte Marshall, Jaime Lopez, Laura Crookes, et al.
American Journal of Medical Genetics. Part A
|
August 24, 2016
Diagnostic conundrums in antenatal presentation of a skeletal dysplasia with description of a heterozygous C-propeptide mutation in COL1A1 associated with a severe presentation of osteogenesis imperfecta
Charlotte J Marshall, Paul Arundel, Talat Mushtaq, et al.
Journal of Medical Genetics
|
December 22, 2017
<i>P4HB</i> recurrent missense mutation causing Cole-Carpenter syndrome
Meena Balasubramanian, Raja Padidela, Rebecca C Pollitt, et al.
American Journal of Medical Genetics. Part A
|
January 22, 2015
CRTAP mutation in a patient with Cole-Carpenter syndrome
Meena Balasubramanian, Rebecca C Pollitt, Kate E Chandler, et al.
American Journal of Medical Genetics. Part A
|
December 7, 2013
Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations
Anthony M Vandersteen, Allan M Lund, David J P Ferguson, et al.
American Journal of Medical Genetics. Part A
|
May 9, 2018
Novel PLS3 variants in X-linked osteoporosis: Exploring bone material properties
Meena Balasubramanian, Nadja Fratzl-Zelman, Rory O'Sullivan, et al.
American Journal of Medical Genetics. Part A
|
April 8, 2015
Clinical, structural, biochemical and X-ray crystallographic correlates of pathogenicity for variants in the C-propeptide region of the COL3A1 gene
Natasha S Stembridge, Anthony M Vandersteen, Neeti Ghali, et al.
American Journal of Medical Genetics. Part A
|
September 1, 2016
Phenotypic variability in patients with osteogenesis imperfecta caused by BMP1 mutations
Rebecca C Pollitt, Vrinda Saraff, Ann Dalton, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 16, 2017
A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history
Cecilia Giunta, Matthias Baumann, Christine Fauth, et al.
Page
of 1