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Human Genetics
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June 1, 1996
Isolation of the human chromosome 22q telomere and its application to detection of cryptic chromosomal abnormalities
Y Ning, M Rosenberg, L G Biesecker, et al.
Human Molecular Genetics
|
July 4, 2002
Allele-specific expression analysis by RNA-FISH demonstrates preferential maternal expression of UBE3A and imprint maintenance within 15q11- q13 duplications
Laura B K Herzing, Edwin H Cook, David H Ledbetter
The American Journal of Physiology
|
November 1, 1978
Synthesis of chromogranins and dopamine beta-hydroxylase by perfused bovine adrenal glands
F H Ledbetter, D Kilpatrick, H L Sage, et al.
JAMA
|
December 15, 1993
Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13
W B Dobyns, O Reiner, R Carrozzo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 10, 2015
Shift happens: family background influences clinical variability in genetic neurodevelopmental disorders
Brenda Finucane, Thomas D Challman, Christa Lese Martin, et al.
Lancet (London, England)
|
December 6, 1997
Neuronally-expressed necdin gene: an imprinted candidate gene in Prader-Willi syndrome
J S Sutcliffe, M Han, S L Christian, et al.
American Journal of Human Genetics
|
April 1, 1986
The anonymous polymorphic DNA clone D1S1, previously mapped to human chromosome 1p36 by in situ hybridization, is from chromosome 3 and is duplicated on chromosome 1
M E Goode, P vanTuinen, D H Ledbetter, et al.
American Journal of Human Genetics
|
January 1, 1992
Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly
S A Ledbetter, A Kuwano, W B Dobyns, et al.
Neurology
|
August 15, 2001
LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ
R J Leventer, C Cardoso, D H Ledbetter, et al.
American Journal of Medical Genetics
|
October 16, 1996
A 5-year-old white girl with Prader-Willi syndrome and a submicroscopic deletion of chromosome 15q11q13
M G Butler, S L Christian, T Kubota, et al.
Page
of 39
Search research articles
Search
Showing results (61-70 of 388) with videos related to
Sort By:
Page
of 39
Human Genetics
|
June 1, 1996
Isolation of the human chromosome 22q telomere and its application to detection of cryptic chromosomal abnormalities
Y Ning, M Rosenberg, L G Biesecker, et al.
Human Molecular Genetics
|
July 4, 2002
Allele-specific expression analysis by RNA-FISH demonstrates preferential maternal expression of UBE3A and imprint maintenance within 15q11- q13 duplications
Laura B K Herzing, Edwin H Cook, David H Ledbetter
The American Journal of Physiology
|
November 1, 1978
Synthesis of chromogranins and dopamine beta-hydroxylase by perfused bovine adrenal glands
F H Ledbetter, D Kilpatrick, H L Sage, et al.
JAMA
|
December 15, 1993
Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13
W B Dobyns, O Reiner, R Carrozzo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 10, 2015
Shift happens: family background influences clinical variability in genetic neurodevelopmental disorders
Brenda Finucane, Thomas D Challman, Christa Lese Martin, et al.
Lancet (London, England)
|
December 6, 1997
Neuronally-expressed necdin gene: an imprinted candidate gene in Prader-Willi syndrome
J S Sutcliffe, M Han, S L Christian, et al.
American Journal of Human Genetics
|
April 1, 1986
The anonymous polymorphic DNA clone D1S1, previously mapped to human chromosome 1p36 by in situ hybridization, is from chromosome 3 and is duplicated on chromosome 1
M E Goode, P vanTuinen, D H Ledbetter, et al.
American Journal of Human Genetics
|
January 1, 1992
Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly
S A Ledbetter, A Kuwano, W B Dobyns, et al.
Neurology
|
August 15, 2001
LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ
R J Leventer, C Cardoso, D H Ledbetter, et al.
American Journal of Medical Genetics
|
October 16, 1996
A 5-year-old white girl with Prader-Willi syndrome and a submicroscopic deletion of chromosome 15q11q13
M G Butler, S L Christian, T Kubota, et al.
Page
of 39