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Human Molecular Genetics
|
November 5, 1999
CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia
G Zhou, Y Chen, L Zhou, 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.
American Journal of Medical Genetics
|
January 1, 1989
Congenital diaphragmatic hernia, coarse facies, and acral hypoplasia: Fryns syndrome
J S Bamforth, C O Leonard, B N Chodirker, et al.
American Journal of Medical Genetics
|
October 1, 1993
Evidence for multi-site closure of the neural tube in humans
M I Van Allen, D K Kalousek, G F Chernoff, et al.
Human Genetics
|
February 1, 1995
Genetic homogeneity of cartilage-hair hypoplasia
T Sulisalo, I van der Burgt, D L Rimoin, et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology
|
April 8, 2009
Extracardiac lesions and chromosomal abnormalities associated with major fetal heart defects: comparison of intrauterine, postnatal and postmortem diagnoses
M S Song, A Hu, U Dyamenahalli, et al.
American Journal of Medical Genetics. Part A
|
May 27, 2010
Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy
A M Lehman, P Eydoux, D Doherty, et al.
American Journal of Medical Genetics
|
June 22, 1999
Early-infantile galactosialidosis: prenatal presentation and postnatal follow-up
M S Patel, J W Callahan, S Zhang, et al.
American Journal of Medical Genetics
|
January 24, 1998
Brachydactyly-short stature-hypertension (Bilginturan) syndrome: report on two families
D Chitayat, A Grix, J W Balfe, et al.
Clinical Genetics
|
April 11, 2014
De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype
M Roifman, C L M Marcelis, T Paton, et al.
Page
of 22
Search research articles
Search
Showing results (181-190 of 211) with videos related to
Sort By:
Page
of 22
Human Molecular Genetics
|
November 5, 1999
CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia
G Zhou, Y Chen, L Zhou, 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.
American Journal of Medical Genetics
|
January 1, 1989
Congenital diaphragmatic hernia, coarse facies, and acral hypoplasia: Fryns syndrome
J S Bamforth, C O Leonard, B N Chodirker, et al.
American Journal of Medical Genetics
|
October 1, 1993
Evidence for multi-site closure of the neural tube in humans
M I Van Allen, D K Kalousek, G F Chernoff, et al.
Human Genetics
|
February 1, 1995
Genetic homogeneity of cartilage-hair hypoplasia
T Sulisalo, I van der Burgt, D L Rimoin, et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology
|
April 8, 2009
Extracardiac lesions and chromosomal abnormalities associated with major fetal heart defects: comparison of intrauterine, postnatal and postmortem diagnoses
M S Song, A Hu, U Dyamenahalli, et al.
American Journal of Medical Genetics. Part A
|
May 27, 2010
Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy
A M Lehman, P Eydoux, D Doherty, et al.
American Journal of Medical Genetics
|
June 22, 1999
Early-infantile galactosialidosis: prenatal presentation and postnatal follow-up
M S Patel, J W Callahan, S Zhang, et al.
American Journal of Medical Genetics
|
January 24, 1998
Brachydactyly-short stature-hypertension (Bilginturan) syndrome: report on two families
D Chitayat, A Grix, J W Balfe, et al.
Clinical Genetics
|
April 11, 2014
De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype
M Roifman, C L M Marcelis, T Paton, et al.
Page
of 22