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American Journal of Human Genetics
|
December 24, 2002
Skewed X-chromosome inactivation is associated with trisomy in women ascertained on the basis of recurrent spontaneous abortion or chromosomally abnormal pregnancies
C L Beever, M D Stephenson, M S Peñaherrera, et al.
American Journal of Medical Genetics
|
August 10, 1999
Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affecting clinical outcome
M S Wang, A Schinzel, D Kotzot, et al.
American Journal of Human Genetics
|
December 1, 1988
Genetic heterogeneity, modes of inheritance, and risk estimates for a joint study of Caucasians with insulin-dependent diabetes mellitus
G Thomson, W P Robinson, M K Kuhner, et al.
American Journal of Medical Genetics
|
October 16, 1996
Comparison of phenotype in uniparental disomy and deletion Prader-Willi syndrome: sex specific differences
J Mitchell, A Schinzel, S Langlois, et al.
Human Reproduction (Oxford, England)
|
September 18, 2010
Identification of copy number variants in miscarriages from couples with idiopathic recurrent pregnancy loss
E Rajcan-Separovic, D Diego-Alvarez, W P Robinson, et al.
American Journal of Human Genetics
|
April 1, 1997
Meiotic origin of trisomy in confined placental mosaicism is correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast, and increased risk of fetal intrauterine growth restriction
W P Robinson, I J Barrett, L Bernard, et al.
Clinical Genetics
|
June 14, 2000
Somatic segregation errors predominantly contribute to the gain or loss of a paternal chromosome leading to uniparental disomy for chromosome 15
W P Robinson, S L Christian, B D Kuchinka, et al.
Clinical Genetics
|
January 10, 2001
An association between skewed X-chromosome inactivation and abnormal outcome in mosaic trisomy 16 confined predominantly to the placenta
M S Peñaherrera, I J Barrett, C J Brown, et al.
Prenatal Diagnosis
|
May 1, 1997
Maternal uniparental disomy of chromosome 2 and confined placental mosaicism for trisomy 2 in a fetus with intrauterine growth restriction, hypospadias, and oligohydramnios
W F Hansen, L E Bernard, S Langlois, et al.
European Journal of Medical Genetics
|
August 6, 2017
A de novo mosaic mutation in SPAST with two novel alternative alleles and chromosomal copy number variant in a boy with spastic paraplegia and autism spectrum disorder
A M Matthews, M Tarailo-Graovac, E M Price, et al.
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of 12
Search research articles
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Showing results (101-110 of 115) with videos related to
Sort By:
Page
of 12
American Journal of Human Genetics
|
December 24, 2002
Skewed X-chromosome inactivation is associated with trisomy in women ascertained on the basis of recurrent spontaneous abortion or chromosomally abnormal pregnancies
C L Beever, M D Stephenson, M S Peñaherrera, et al.
American Journal of Medical Genetics
|
August 10, 1999
Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affecting clinical outcome
M S Wang, A Schinzel, D Kotzot, et al.
American Journal of Human Genetics
|
December 1, 1988
Genetic heterogeneity, modes of inheritance, and risk estimates for a joint study of Caucasians with insulin-dependent diabetes mellitus
G Thomson, W P Robinson, M K Kuhner, et al.
American Journal of Medical Genetics
|
October 16, 1996
Comparison of phenotype in uniparental disomy and deletion Prader-Willi syndrome: sex specific differences
J Mitchell, A Schinzel, S Langlois, et al.
Human Reproduction (Oxford, England)
|
September 18, 2010
Identification of copy number variants in miscarriages from couples with idiopathic recurrent pregnancy loss
E Rajcan-Separovic, D Diego-Alvarez, W P Robinson, et al.
American Journal of Human Genetics
|
April 1, 1997
Meiotic origin of trisomy in confined placental mosaicism is correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast, and increased risk of fetal intrauterine growth restriction
W P Robinson, I J Barrett, L Bernard, et al.
Clinical Genetics
|
June 14, 2000
Somatic segregation errors predominantly contribute to the gain or loss of a paternal chromosome leading to uniparental disomy for chromosome 15
W P Robinson, S L Christian, B D Kuchinka, et al.
Clinical Genetics
|
January 10, 2001
An association between skewed X-chromosome inactivation and abnormal outcome in mosaic trisomy 16 confined predominantly to the placenta
M S Peñaherrera, I J Barrett, C J Brown, et al.
Prenatal Diagnosis
|
May 1, 1997
Maternal uniparental disomy of chromosome 2 and confined placental mosaicism for trisomy 2 in a fetus with intrauterine growth restriction, hypospadias, and oligohydramnios
W F Hansen, L E Bernard, S Langlois, et al.
European Journal of Medical Genetics
|
August 6, 2017
A de novo mosaic mutation in SPAST with two novel alternative alleles and chromosomal copy number variant in a boy with spastic paraplegia and autism spectrum disorder
A M Matthews, M Tarailo-Graovac, E M Price, et al.
Page
of 12