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American Journal of Medical Genetics
|
May 8, 1995
Prenatal diagnosis of retinal nonattachment in the Walker-Warburg syndrome
D Chitayat, A Toi, R Babul, et al.
American Journal of Medical Genetics
|
January 16, 1995
Syndrome of proximal interstitial deletion 4p15: report of three cases and review of the literature
D Chitayat, R H Ruvalcaba, R Babul, et al.
American Journal of Medical Genetics
|
August 9, 1996
Tissue-specific methylation differences and cognitive function in fragile X premutation females
D J Allingham-Hawkins, C A Brown, R Babul, et al.
American Journal of Medical Genetics
|
March 31, 1997
Omphalocele in Miller-Dieker syndrome: expanding the phenotype
D Chitayat, A Toi, R Babul, et al.
Human Genetics
|
December 24, 1997
A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix
H Winter, M A Rogers, M Gebhardt, et al.
Archives of Neurology
|
November 1, 1996
Limits of clinical assessment in the accurate diagnosis of Machado-Joseph disease
I Lopes-Cendes, I Silveira, P Maciel, et al.
Nature Genetics
|
March 18, 1999
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis
Y Gong, D Krakow, J Marcelino, et al.
Neurology
|
January 1, 1996
Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients
I Silveira, I Lopes-Cendes, S Kish, et al.
American Journal of Medical Genetics
|
April 20, 1999
Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study--preliminary data
D J Allingham-Hawkins, R Babul-Hirji, D Chitayat, et al.
Human Molecular Genetics
|
September 5, 2001
The mutational spectrum of human malignant autosomal recessive osteopetrosis
C Sobacchi, A Frattini, P Orchard, et al.
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of 2
Search research articles
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Showing results (11-20 of 20) with videos related to
Sort By:
Page
of 2
You have reached the last page of results.
This site can display upto 20 results.
American Journal of Medical Genetics
|
May 8, 1995
Prenatal diagnosis of retinal nonattachment in the Walker-Warburg syndrome
D Chitayat, A Toi, R Babul, et al.
American Journal of Medical Genetics
|
January 16, 1995
Syndrome of proximal interstitial deletion 4p15: report of three cases and review of the literature
D Chitayat, R H Ruvalcaba, R Babul, et al.
American Journal of Medical Genetics
|
August 9, 1996
Tissue-specific methylation differences and cognitive function in fragile X premutation females
D J Allingham-Hawkins, C A Brown, R Babul, et al.
American Journal of Medical Genetics
|
March 31, 1997
Omphalocele in Miller-Dieker syndrome: expanding the phenotype
D Chitayat, A Toi, R Babul, et al.
Human Genetics
|
December 24, 1997
A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix
H Winter, M A Rogers, M Gebhardt, et al.
Archives of Neurology
|
November 1, 1996
Limits of clinical assessment in the accurate diagnosis of Machado-Joseph disease
I Lopes-Cendes, I Silveira, P Maciel, et al.
Nature Genetics
|
March 18, 1999
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis
Y Gong, D Krakow, J Marcelino, et al.
Neurology
|
January 1, 1996
Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients
I Silveira, I Lopes-Cendes, S Kish, et al.
American Journal of Medical Genetics
|
April 20, 1999
Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study--preliminary data
D J Allingham-Hawkins, R Babul-Hirji, D Chitayat, et al.
Human Molecular Genetics
|
September 5, 2001
The mutational spectrum of human malignant autosomal recessive osteopetrosis
C Sobacchi, A Frattini, P Orchard, et al.
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of 2