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Molecular Syndromology
|
May 9, 2013
The c.7409G>A (p.Cys2470Tyr) Variant of FBN1: Phenotypic Variability across Three Generations
K J Potter, S Creighton, L Armstrong, et al.
Journal of Medical Genetics
|
January 1, 1996
Translocation between chromosomes 6 and 15 (45,XX,t(6;15)(q25;q11.2)) with further evidence for lack of imprinting of the insulin-like growth factor II/mannose-6-phosphate receptor in humans
E Treacy, C Polychronakos, M Vekemans, et al.
Journal of Medical Genetics
|
December 7, 2007
A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1alpha
F R Zahir, A Baross, A D Delaney, et al.
Genes, Chromosomes & Cancer
|
March 10, 2001
Reassessment of childhood B-lineage lymphoblastic leukemia karyotypes using spectral analysis
H Elghezal, G Le Guyader, I Radford-Weiss, et al.
Prenatal Diagnosis
|
April 1, 1989
Chromosomal prenatal diagnosis: study of 936 cases of intrauterine abnormalities after ultrasound assessment
P Eydoux, A Choiset, N Le Porrier, et al.
Human Molecular Genetics
|
December 1, 1996
Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders
D Leclerc, E Campeau, P Goyette, et al.
American Journal of Medical Genetics
|
October 2, 1996
Possible new variant of Nijmegen breakage syndrome
V M Der Kaloustian, W Kleijer, A Booth, et al.
Journal De Gynecologie, Obstetrique Et Biologie De La Reproduction
|
April 26, 2002
[Isolated antenatal pyelic dilatation: postnatal follow-up and care for vesico-ureteral reflux]
M De Spirlet, H B Lottmann, S Omnès, et al.
In Vitro Cellular & Developmental Biology. Animal
|
August 19, 2000
Characterization of four novel epithelial ovarian cancer cell lines
D M Provencher, H Lounis, L Champoux, 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.
Page
of 5
Search research articles
Search
Showing results (31-40 of 42) with videos related to
Sort By:
Page
of 5
Molecular Syndromology
|
May 9, 2013
The c.7409G>A (p.Cys2470Tyr) Variant of FBN1: Phenotypic Variability across Three Generations
K J Potter, S Creighton, L Armstrong, et al.
Journal of Medical Genetics
|
January 1, 1996
Translocation between chromosomes 6 and 15 (45,XX,t(6;15)(q25;q11.2)) with further evidence for lack of imprinting of the insulin-like growth factor II/mannose-6-phosphate receptor in humans
E Treacy, C Polychronakos, M Vekemans, et al.
Journal of Medical Genetics
|
December 7, 2007
A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1alpha
F R Zahir, A Baross, A D Delaney, et al.
Genes, Chromosomes & Cancer
|
March 10, 2001
Reassessment of childhood B-lineage lymphoblastic leukemia karyotypes using spectral analysis
H Elghezal, G Le Guyader, I Radford-Weiss, et al.
Prenatal Diagnosis
|
April 1, 1989
Chromosomal prenatal diagnosis: study of 936 cases of intrauterine abnormalities after ultrasound assessment
P Eydoux, A Choiset, N Le Porrier, et al.
Human Molecular Genetics
|
December 1, 1996
Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders
D Leclerc, E Campeau, P Goyette, et al.
American Journal of Medical Genetics
|
October 2, 1996
Possible new variant of Nijmegen breakage syndrome
V M Der Kaloustian, W Kleijer, A Booth, et al.
Journal De Gynecologie, Obstetrique Et Biologie De La Reproduction
|
April 26, 2002
[Isolated antenatal pyelic dilatation: postnatal follow-up and care for vesico-ureteral reflux]
M De Spirlet, H B Lottmann, S Omnès, et al.
In Vitro Cellular & Developmental Biology. Animal
|
August 19, 2000
Characterization of four novel epithelial ovarian cancer cell lines
D M Provencher, H Lounis, L Champoux, 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.
Page
of 5