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Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America
|
May 23, 2007
Low mannose-binding lectin concentration is associated with severe infection in patients with hematological cancer who are undergoing chemotherapy
M Vekemans, J Robinson, A Georgala, et al.
American Journal of Medical Genetics. Part A
|
June 9, 2012
Homozygous SMN1 exons 1-6 deletion: pitfalls in genetic counseling and general recommendations for spinal muscular atrophy molecular diagnosis
C Thauvin-Robinet, S Drunat, P Saugier Veber, et al.
Clinical Genetics
|
January 13, 2016
Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test
J Thevenon, Y Duffourd, A Masurel-Paulet, et al.
Digestive Diseases and Sciences
|
May 11, 1999
Chronic intestinal pseudoobstruction syndrome: clinical analysis, outcome, and prognosis in 105 children. French-Speaking Group of Pediatric Gastroenterology
C Faure, O Goulet, S Ategbo, et al.
Human Mutation
|
July 29, 2011
GLI3 is rarely implicated in OFD syndromes with midline abnormalities
M Avila, N Gigot, B Aral, et al.
Clinical Genetics
|
March 3, 2018
Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly
A-L Bruel, J Thevenon, F Huet, et al.
American Journal of Medical Genetics. Part A
|
April 23, 2015
Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome
A Bourchany, I Giurgea, J Thevenon, et al.
Journal of Medical Genetics
|
January 7, 2006
Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study
C Thauvin-Robinet, M Cossée, V Cormier-Daire, et al.
Prenatal Diagnosis
|
November 14, 2012
What do French patients and geneticists think about prenatal and preimplantation diagnoses in Marfan syndrome?
F Coron, T Rousseau, G Jondeau, et al.
Clinical Genetics
|
October 13, 2009
Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I
S Saal, L Faivre, Bernard Aral, et al.
Page
of 13
Search research articles
Search
Showing results (111-120 of 127) with videos related to
Sort By:
Page
of 13
Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America
|
May 23, 2007
Low mannose-binding lectin concentration is associated with severe infection in patients with hematological cancer who are undergoing chemotherapy
M Vekemans, J Robinson, A Georgala, et al.
American Journal of Medical Genetics. Part A
|
June 9, 2012
Homozygous SMN1 exons 1-6 deletion: pitfalls in genetic counseling and general recommendations for spinal muscular atrophy molecular diagnosis
C Thauvin-Robinet, S Drunat, P Saugier Veber, et al.
Clinical Genetics
|
January 13, 2016
Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test
J Thevenon, Y Duffourd, A Masurel-Paulet, et al.
Digestive Diseases and Sciences
|
May 11, 1999
Chronic intestinal pseudoobstruction syndrome: clinical analysis, outcome, and prognosis in 105 children. French-Speaking Group of Pediatric Gastroenterology
C Faure, O Goulet, S Ategbo, et al.
Human Mutation
|
July 29, 2011
GLI3 is rarely implicated in OFD syndromes with midline abnormalities
M Avila, N Gigot, B Aral, et al.
Clinical Genetics
|
March 3, 2018
Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly
A-L Bruel, J Thevenon, F Huet, et al.
American Journal of Medical Genetics. Part A
|
April 23, 2015
Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome
A Bourchany, I Giurgea, J Thevenon, et al.
Journal of Medical Genetics
|
January 7, 2006
Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study
C Thauvin-Robinet, M Cossée, V Cormier-Daire, et al.
Prenatal Diagnosis
|
November 14, 2012
What do French patients and geneticists think about prenatal and preimplantation diagnoses in Marfan syndrome?
F Coron, T Rousseau, G Jondeau, et al.
Clinical Genetics
|
October 13, 2009
Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I
S Saal, L Faivre, Bernard Aral, et al.
Page
of 13