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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.
Bone
|
November 7, 2016
Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta
M Balasubramanian, J Hurst, S Brown, et al.
Equine Veterinary Journal
|
February 17, 2010
Repeatability of subjective evaluation of lameness in horses
K G Keegan, E V Dent, D A Wilson, et al.
Neuromuscular Disorders : NMD
|
October 29, 2000
Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies)
L V Anderson, R M Harrison, R Pogue, et al.
Human Molecular Genetics
|
December 14, 2001
Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C
M Brockington, Y Yuva, P Prandini, et al.
Annals of Neurology
|
August 12, 2000
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene
G Bonne, E Mercuri, A Muchir, et al.
Proceedings. Biological Sciences
|
September 26, 2014
The path of least resistance: aggressive or moderate treatment?
Roger D Kouyos, C Jessica E Metcalf, Ruthie Birger, et al.
American Journal of Human Genetics
|
May 20, 1999
Calpainopathy-a survey of mutations and polymorphisms
I Richard, C Roudaut, A Saenz, 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 (171-180 of 180) with videos related to
Sort By:
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You have reached the last page of results.
This site can display upto 180 results.
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.
Bone
|
November 7, 2016
Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta
M Balasubramanian, J Hurst, S Brown, et al.
Equine Veterinary Journal
|
February 17, 2010
Repeatability of subjective evaluation of lameness in horses
K G Keegan, E V Dent, D A Wilson, et al.
Neuromuscular Disorders : NMD
|
October 29, 2000
Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies)
L V Anderson, R M Harrison, R Pogue, et al.
Human Molecular Genetics
|
December 14, 2001
Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C
M Brockington, Y Yuva, P Prandini, et al.
Annals of Neurology
|
August 12, 2000
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene
G Bonne, E Mercuri, A Muchir, et al.
Proceedings. Biological Sciences
|
September 26, 2014
The path of least resistance: aggressive or moderate treatment?
Roger D Kouyos, C Jessica E Metcalf, Ruthie Birger, et al.
American Journal of Human Genetics
|
May 20, 1999
Calpainopathy-a survey of mutations and polymorphisms
I Richard, C Roudaut, A Saenz, 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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of 18