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Journal of Clinical Immunology
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November 7, 2025
Next-generation Sequencing and Other Second Tier Tests in Newborn Screening for (X-linked) Agammaglobulinemia
Maartje Blom, Annelotte J Duintjer, Ingrid Pico-Knijnenburg, et al.
Human Mutation
|
October 8, 2009
Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb)
Ivy Jennes, Elena Pedrini, Monia Zuntini, et al.
Plos One
|
January 7, 2014
Mrassf1a-pap, a novel methylation-based assay for the detection of cell-free fetal DNA in maternal plasma
Jessica M E van den Oever, Sahila Balkassmi, Tim Segboer, et al.
Clinical Chemistry
|
January 15, 2013
Successful noninvasive trisomy 18 detection using single molecule sequencing
Jessica M E van den Oever, Sahila Balkassmi, Lennart F Johansson, et al.
Clinical Chemistry
|
January 27, 2012
Single molecule sequencing of free DNA from maternal plasma for noninvasive trisomy 21 detection
Jessica M E van den Oever, Sahila Balkassmi, E Joanne Verweij, et al.
Lancet (London, England)
|
October 19, 2004
Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation
Edith C H Friesema, Annette Grueters, Heike Biebermann, et al.
Page
of 1
Search research articles
Search
Showing results (1-10 of 6) with videos related to
Sort By:
Page
of 1
Journal of Clinical Immunology
|
November 7, 2025
Next-generation Sequencing and Other Second Tier Tests in Newborn Screening for (X-linked) Agammaglobulinemia
Maartje Blom, Annelotte J Duintjer, Ingrid Pico-Knijnenburg, et al.
Human Mutation
|
October 8, 2009
Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb)
Ivy Jennes, Elena Pedrini, Monia Zuntini, et al.
Plos One
|
January 7, 2014
Mrassf1a-pap, a novel methylation-based assay for the detection of cell-free fetal DNA in maternal plasma
Jessica M E van den Oever, Sahila Balkassmi, Tim Segboer, et al.
Clinical Chemistry
|
January 15, 2013
Successful noninvasive trisomy 18 detection using single molecule sequencing
Jessica M E van den Oever, Sahila Balkassmi, Lennart F Johansson, et al.
Clinical Chemistry
|
January 27, 2012
Single molecule sequencing of free DNA from maternal plasma for noninvasive trisomy 21 detection
Jessica M E van den Oever, Sahila Balkassmi, E Joanne Verweij, et al.
Lancet (London, England)
|
October 19, 2004
Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation
Edith C H Friesema, Annette Grueters, Heike Biebermann, et al.
Page
of 1