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K Bouman

Showing results (51-60 of 63) with videos related to

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Journal of Medical Genetics|February 12, 2002
Acrofacial dysostosis in a patient with the TSC2-PKD1 contiguous gene syndromeJ G Dauwerse, K Bouman, A J van Essen, et al.
Human Reproduction (Oxford, England)|November 19, 2009
A reduced size of the ovarian follicle pool is associated with an increased risk of a trisomic pregnancy in IVF-treated womenM L Haadsma, T M Mooij, H Groen, et al.
BJOG : an International Journal of Obstetrics and Gynaecology|March 24, 2006
The Tulip classification of perinatal mortality: introduction and multidisciplinary inter-rater agreementF J Korteweg, S J Gordijn, A Timmer, et al.
Prenatal Diagnosis|December 5, 2009
A live-born child with a mosaic chromosomal pattern of either monosomy 21 or trisomy 4 in different embryonal germ layersA M F van der Kevie-Kersemaekers, R F Suijkerbuijk, F C P Moll, et al.
American Journal of Medical Genetics|August 17, 1999
Tetrasomy 9p due to an intrachromosomal triplication of 9p13-p22J B Verheij, K Bouman, R A van Lingen, et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia|February 7, 2015
Risk of erroneous results in carrier testing for haemophilia A without prior DNA analysis in male index patientsD E Fransen van de Putte, W S Frankhuizen, L Vijfhuizen, et al.
Journal of Neuromuscular Diseases|April 25, 2025
Liver function in X-linked myotubular myopathy and autosomal dominant centronuclear myopathy: Data of the unite-CNM studyS Colombo, B S Cowling, L Eyler, et al.
Journal of Medical Genetics|January 1, 1996
Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complexR Vrtel, S Verhoef, K Bouman, et al.
BMC Neurology|October 24, 2024
A 5-year natural history study in LAMA2-related muscular dystrophy and SELENON-related myopathy: the Extended LAST STRONG studyE C M de Laat, S L S Houwen-van Opstal, K Bouman, et al.
JIMD Reports|May 13, 2024
Oral ribose supplementation in dystroglycanopathy: A single case studyR M J Thewissen, M A Post, D M Maas, et al.
Pageof 7

Showing results (51-60 of 63) with videos related to

Sort By:
Pageof 7
Journal of Medical Genetics|February 12, 2002
Acrofacial dysostosis in a patient with the TSC2-PKD1 contiguous gene syndromeJ G Dauwerse, K Bouman, A J van Essen, et al.
Human Reproduction (Oxford, England)|November 19, 2009
A reduced size of the ovarian follicle pool is associated with an increased risk of a trisomic pregnancy in IVF-treated womenM L Haadsma, T M Mooij, H Groen, et al.
BJOG : an International Journal of Obstetrics and Gynaecology|March 24, 2006
The Tulip classification of perinatal mortality: introduction and multidisciplinary inter-rater agreementF J Korteweg, S J Gordijn, A Timmer, et al.
Prenatal Diagnosis|December 5, 2009
A live-born child with a mosaic chromosomal pattern of either monosomy 21 or trisomy 4 in different embryonal germ layersA M F van der Kevie-Kersemaekers, R F Suijkerbuijk, F C P Moll, et al.
American Journal of Medical Genetics|August 17, 1999
Tetrasomy 9p due to an intrachromosomal triplication of 9p13-p22J B Verheij, K Bouman, R A van Lingen, et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia|February 7, 2015
Risk of erroneous results in carrier testing for haemophilia A without prior DNA analysis in male index patientsD E Fransen van de Putte, W S Frankhuizen, L Vijfhuizen, et al.
Journal of Neuromuscular Diseases|April 25, 2025
Liver function in X-linked myotubular myopathy and autosomal dominant centronuclear myopathy: Data of the unite-CNM studyS Colombo, B S Cowling, L Eyler, et al.
Journal of Medical Genetics|January 1, 1996
Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complexR Vrtel, S Verhoef, K Bouman, et al.
BMC Neurology|October 24, 2024
A 5-year natural history study in LAMA2-related muscular dystrophy and SELENON-related myopathy: the Extended LAST STRONG studyE C M de Laat, S L S Houwen-van Opstal, K Bouman, et al.
JIMD Reports|May 13, 2024
Oral ribose supplementation in dystroglycanopathy: A single case studyR M J Thewissen, M A Post, D M Maas, et al.
Pageof 7