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Clinical Genetics
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March 7, 2014
Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1
J M van de Kamp, A Errami, M Howidi, et al.
Neurology
|
March 1, 2006
Alexander disease: ventricular garlands and abnormalities of the medulla and spinal cord
M S van der Knaap, V Ramesh, R Schiffmann, et al.
Clinical Genetics
|
December 29, 2017
Homozygous TMEM127 mutations in 2 patients with bilateral pheochromocytomas
K Eijkelenkamp, M J W Olderode-Berends, R B van der Luijt, et al.
Clinical Genetics
|
June 10, 2010
Clinical features and X-inactivation in females heterozygous for creatine transporter defect
J M van de Kamp, G M S Mancini, P J W Pouwels, et al.
Journal of Medical Genetics
|
September 20, 2013
Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing
Benjamin Nota, Eline M Hamilton, Daoud Sie, et al.
American Journal of Human Genetics
|
March 8, 2005
Congenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization
M Klaassens, M van Dooren, H J Eussen, et al.
Birth Defects Research
|
August 6, 2020
Exploring copy number variants in deceased fetuses and neonates with abnormal vertebral patterns and cervical ribs
Pauline C Schut, Erwin Brosens, Tom J M Van Dooren, et al.
Communications Biology
|
January 14, 2022
Lifespan prolonging mechanisms and insulin upregulation without fat accumulation in long-lived reproductives of a higher termite
Sarah Séité, Mark C Harrison, David Sillam-Dussès, et al.
Journal of Perinatal Medicine
|
November 6, 2020
External validation of a prediction model on vaginal birth after caesarean in a The Netherlands: a prospective cohort study
Emy Vankan, Sander M J van Kuijk, Jan G Nijhuis, et al.
Human Mutation
|
March 26, 2019
D-2-hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants
Ana Pop, Eduard A Struys, Erwin E W Jansen, et al.
Page
of 9
Search research articles
Search
Showing results (61-70 of 83) with videos related to
Sort By:
Page
of 9
Clinical Genetics
|
March 7, 2014
Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1
J M van de Kamp, A Errami, M Howidi, et al.
Neurology
|
March 1, 2006
Alexander disease: ventricular garlands and abnormalities of the medulla and spinal cord
M S van der Knaap, V Ramesh, R Schiffmann, et al.
Clinical Genetics
|
December 29, 2017
Homozygous TMEM127 mutations in 2 patients with bilateral pheochromocytomas
K Eijkelenkamp, M J W Olderode-Berends, R B van der Luijt, et al.
Clinical Genetics
|
June 10, 2010
Clinical features and X-inactivation in females heterozygous for creatine transporter defect
J M van de Kamp, G M S Mancini, P J W Pouwels, et al.
Journal of Medical Genetics
|
September 20, 2013
Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing
Benjamin Nota, Eline M Hamilton, Daoud Sie, et al.
American Journal of Human Genetics
|
March 8, 2005
Congenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization
M Klaassens, M van Dooren, H J Eussen, et al.
Birth Defects Research
|
August 6, 2020
Exploring copy number variants in deceased fetuses and neonates with abnormal vertebral patterns and cervical ribs
Pauline C Schut, Erwin Brosens, Tom J M Van Dooren, et al.
Communications Biology
|
January 14, 2022
Lifespan prolonging mechanisms and insulin upregulation without fat accumulation in long-lived reproductives of a higher termite
Sarah Séité, Mark C Harrison, David Sillam-Dussès, et al.
Journal of Perinatal Medicine
|
November 6, 2020
External validation of a prediction model on vaginal birth after caesarean in a The Netherlands: a prospective cohort study
Emy Vankan, Sander M J van Kuijk, Jan G Nijhuis, et al.
Human Mutation
|
March 26, 2019
D-2-hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants
Ana Pop, Eduard A Struys, Erwin E W Jansen, et al.
Page
of 9