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The British Journal of Dermatology
|
April 12, 2001
Homozygosity at chromosome 8qter in individuals affected by mal de Meleda (Meleda disease) originating from the island of Meleda
H Patel, M Nardelli, T Fenn, et al.
Animal Genetics
|
November 20, 2008
A mutation in NFkappaB interacting protein 1 causes cardiomyopathy and woolly haircoat syndrome of Poll Hereford cattle
M A Simpson, R W Cook, P Solanki, et al.
Neuropediatrics
|
April 1, 1996
Cobblestone lissencephaly with normal eyes and muscle
W B Dobyns, M A Patton, R F Stratton, et al.
American Journal of Medical Genetics
|
November 14, 2000
Three novel mutations of the proto-oncogene KIT cause human piebaldism
P Syrris, N M Malik, V A Murday, et al.
American Journal of Human Genetics
|
June 5, 2001
The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype
H Patel, P E Hart, T T Warner, et al.
Journal of Medical Genetics
|
January 15, 2000
Clinical and molecular findings in a patient with a deletion on the long arm of chromosome 12
A F Brady, M M Elsawi, C R Jamieson, et al.
The Journal of Laboratory and Clinical Medicine
|
August 1, 1994
Blood lead concentrations in hereditary hemochromatosis
J C Barton, M A Patton, C Q Edwards, et al.
Cardiology
|
October 30, 2008
Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair
M A Simpson, S Mansour, D Ahnood, et al.
Neurology
|
May 9, 2008
A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23
K J Dick, R Al-Mjeni, W Baskir, et al.
Human Mutation
|
January 29, 2003
Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene
C Proukakis, M Auer-Grumbach, K Wagner, et al.
Page
of 11
Search research articles
Search
Showing results (81-90 of 110) with videos related to
Sort By:
Page
of 11
The British Journal of Dermatology
|
April 12, 2001
Homozygosity at chromosome 8qter in individuals affected by mal de Meleda (Meleda disease) originating from the island of Meleda
H Patel, M Nardelli, T Fenn, et al.
Animal Genetics
|
November 20, 2008
A mutation in NFkappaB interacting protein 1 causes cardiomyopathy and woolly haircoat syndrome of Poll Hereford cattle
M A Simpson, R W Cook, P Solanki, et al.
Neuropediatrics
|
April 1, 1996
Cobblestone lissencephaly with normal eyes and muscle
W B Dobyns, M A Patton, R F Stratton, et al.
American Journal of Medical Genetics
|
November 14, 2000
Three novel mutations of the proto-oncogene KIT cause human piebaldism
P Syrris, N M Malik, V A Murday, et al.
American Journal of Human Genetics
|
June 5, 2001
The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype
H Patel, P E Hart, T T Warner, et al.
Journal of Medical Genetics
|
January 15, 2000
Clinical and molecular findings in a patient with a deletion on the long arm of chromosome 12
A F Brady, M M Elsawi, C R Jamieson, et al.
The Journal of Laboratory and Clinical Medicine
|
August 1, 1994
Blood lead concentrations in hereditary hemochromatosis
J C Barton, M A Patton, C Q Edwards, et al.
Cardiology
|
October 30, 2008
Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair
M A Simpson, S Mansour, D Ahnood, et al.
Neurology
|
May 9, 2008
A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23
K J Dick, R Al-Mjeni, W Baskir, et al.
Human Mutation
|
January 29, 2003
Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene
C Proukakis, M Auer-Grumbach, K Wagner, et al.
Page
of 11