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American Journal of Medical Genetics
|
February 5, 1998
Karsch-Neugebauer syndrome in two sibs with unaffected parents
S C Wong, J M Cobben, S Hiemstra, et al.
Human Molecular Genetics
|
October 1, 1994
Two new mutations affecting the donor splice site of COL3A1 IVS37 and causing skipping of exon 37 in patients with Ehlers-Danlos syndrome type IV
A J Richards, P Narcisi, C Ferguson, et al.
Kidney International
|
November 1, 1990
Congenital hepatic fibrosis in autosomal-dominant polycystic kidney disease
J M Cobben, M H Breuning, C Schoots, et al.
Genetic Counseling (Geneva, Switzerland)
|
January 1, 1994
Fluorescence in situ hybridisation on formalin fixed fetal tissue in the diagnosis of chromosomal syndromes
J M Cobben, C E Essed, J Hirdes, et al.
BJOG : an International Journal of Obstetrics and Gynaecology
|
May 23, 2007
Low levels of prenatal alcohol exposure can cause fetal damage
D Black, J M Cobben, R Didden, et al.
Prenatal Diagnosis
|
August 9, 2001
Two unbalanced segregation products due to a maternal t(7;16)inv(16)
B Leegte, B Sikkema-Raddatz, R Hordijk, et al.
American Journal of Human Genetics
|
October 1, 1995
Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy
J M Cobben, G van der Steege, P Grootscholten, et al.
European Journal of Medical Genetics
|
December 21, 2010
Solitary median maxillary central incisor and congenital nasal pyriform aperture stenosis combined with asymmetric crying facies and postaxial lower limb reduction defects: a unique combination of features
F S Van Dijk, H F van Thuijl, A Wermeskerken, et al.
European Journal of Medical Genetics
|
November 3, 2009
Classification of Osteogenesis Imperfecta revisited
F S Van Dijk, G Pals, R R Van Rijn, et al.
Lancet (London, England)
|
July 29, 1995
SMN gene deletion in variant of infantile spinal muscular atrophy
L Bürglen, R Spiegel, J Ignatius, et al.
Page
of 7
Search research articles
Search
Showing results (21-30 of 63) with videos related to
Sort By:
Page
of 7
American Journal of Medical Genetics
|
February 5, 1998
Karsch-Neugebauer syndrome in two sibs with unaffected parents
S C Wong, J M Cobben, S Hiemstra, et al.
Human Molecular Genetics
|
October 1, 1994
Two new mutations affecting the donor splice site of COL3A1 IVS37 and causing skipping of exon 37 in patients with Ehlers-Danlos syndrome type IV
A J Richards, P Narcisi, C Ferguson, et al.
Kidney International
|
November 1, 1990
Congenital hepatic fibrosis in autosomal-dominant polycystic kidney disease
J M Cobben, M H Breuning, C Schoots, et al.
Genetic Counseling (Geneva, Switzerland)
|
January 1, 1994
Fluorescence in situ hybridisation on formalin fixed fetal tissue in the diagnosis of chromosomal syndromes
J M Cobben, C E Essed, J Hirdes, et al.
BJOG : an International Journal of Obstetrics and Gynaecology
|
May 23, 2007
Low levels of prenatal alcohol exposure can cause fetal damage
D Black, J M Cobben, R Didden, et al.
Prenatal Diagnosis
|
August 9, 2001
Two unbalanced segregation products due to a maternal t(7;16)inv(16)
B Leegte, B Sikkema-Raddatz, R Hordijk, et al.
American Journal of Human Genetics
|
October 1, 1995
Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy
J M Cobben, G van der Steege, P Grootscholten, et al.
European Journal of Medical Genetics
|
December 21, 2010
Solitary median maxillary central incisor and congenital nasal pyriform aperture stenosis combined with asymmetric crying facies and postaxial lower limb reduction defects: a unique combination of features
F S Van Dijk, H F van Thuijl, A Wermeskerken, et al.
European Journal of Medical Genetics
|
November 3, 2009
Classification of Osteogenesis Imperfecta revisited
F S Van Dijk, G Pals, R R Van Rijn, et al.
Lancet (London, England)
|
July 29, 1995
SMN gene deletion in variant of infantile spinal muscular atrophy
L Bürglen, R Spiegel, J Ignatius, et al.
Page
of 7