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Journal of Medical Genetics
|
February 1, 2008
Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome
B Chabrol, K Martens, S Meulemans, et al.
Journal of Vascular Surgery Cases and Innovative Techniques
|
August 21, 2025
Percutaneous transthoracic coil embolization of a gutter-related type Ia endoleak after chimney thoracic endovascular aortic repair
Emiel W M Huistra, Ignace F J Tielliu, Aryan Mazuri, et al.
American Journal of Human Genetics
|
June 12, 1999
Haploinsufficiency of the HOXA gene cluster, in a patient with hand-foot-genital syndrome, velopharyngeal insufficiency, and persistent patent Ductus botalli
K Devriendt, J Jaeken, G Matthijs, et al.
BMJ Case Reports
|
June 21, 2011
Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome
B Chabrol, K Martens, S Meulemans, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
January 14, 2012
SRD5A3-CDG: a patient with a novel mutation
C S Kasapkara, L Tümer, F S Ezgü, et al.
International Journal of Andrology
|
October 6, 1999
Laboratory guidelines for molecular diagnosis of Y-chromosomal microdeletions
M Simoni, E Bakker, M C Eurlings, et al.
Journal of Medical Genetics
|
November 3, 2004
Increased recurrence risk in congenital disorders of glycosylation type Ia (CDG-Ia) due to a transmission ratio distortion
E Schollen, S Kjaergaard, T Martinsson, et al.
Archives of Neurology
|
January 1, 1996
Familial juvenile focal amyotrophy of the upper extremity (Hirayama disease). Superoxide dismutase 1 genotype and activity
W Robberecht, T Aguirre, L Van den Bosch, et al.
JIMD Reports
|
February 23, 2013
Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165
R Zeevaert, F de Zegher, L Sturiale, et al.
Genomics
|
March 1, 1994
Regional assignment of seven loci to 12p13.2-pter by PCR analysis of somatic cell hybrids containing the der(12) or the der(X) chromosome from a mesothelioma showing t(X;12)(q22;p13)
J Aerssens, M Chaffanet, M Baens, et al.
Page
of 16
Search research articles
Search
Showing results (71-80 of 157) with videos related to
Sort By:
Page
of 16
Journal of Medical Genetics
|
February 1, 2008
Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome
B Chabrol, K Martens, S Meulemans, et al.
Journal of Vascular Surgery Cases and Innovative Techniques
|
August 21, 2025
Percutaneous transthoracic coil embolization of a gutter-related type Ia endoleak after chimney thoracic endovascular aortic repair
Emiel W M Huistra, Ignace F J Tielliu, Aryan Mazuri, et al.
American Journal of Human Genetics
|
June 12, 1999
Haploinsufficiency of the HOXA gene cluster, in a patient with hand-foot-genital syndrome, velopharyngeal insufficiency, and persistent patent Ductus botalli
K Devriendt, J Jaeken, G Matthijs, et al.
BMJ Case Reports
|
June 21, 2011
Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome
B Chabrol, K Martens, S Meulemans, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
January 14, 2012
SRD5A3-CDG: a patient with a novel mutation
C S Kasapkara, L Tümer, F S Ezgü, et al.
International Journal of Andrology
|
October 6, 1999
Laboratory guidelines for molecular diagnosis of Y-chromosomal microdeletions
M Simoni, E Bakker, M C Eurlings, et al.
Journal of Medical Genetics
|
November 3, 2004
Increased recurrence risk in congenital disorders of glycosylation type Ia (CDG-Ia) due to a transmission ratio distortion
E Schollen, S Kjaergaard, T Martinsson, et al.
Archives of Neurology
|
January 1, 1996
Familial juvenile focal amyotrophy of the upper extremity (Hirayama disease). Superoxide dismutase 1 genotype and activity
W Robberecht, T Aguirre, L Van den Bosch, et al.
JIMD Reports
|
February 23, 2013
Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165
R Zeevaert, F de Zegher, L Sturiale, et al.
Genomics
|
March 1, 1994
Regional assignment of seven loci to 12p13.2-pter by PCR analysis of somatic cell hybrids containing the der(12) or the der(X) chromosome from a mesothelioma showing t(X;12)(q22;p13)
J Aerssens, M Chaffanet, M Baens, et al.
Page
of 16