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D Lacombe

Showing results (211-220 of 225) with videos related to

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BMC Health Services Research|April 21, 2023
Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French settingA L Soilly, C Robert-Viard, C Besse, et al.
European Journal of Human Genetics : EJHG|November 5, 1998
Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicismG Karadima, M Bugge, P Nicolaidis, et al.
Annales De Genetique|January 1, 1997
Collaborative study of mosaic tetrasomy 12p or Pallister-Killian syndrome (nineteen fetuses or children)M Mathieu, C Piussan, F Thepot, et al.
Clinical Genetics|September 26, 2015
Fetal phenotypes in otopalatodigital spectrum disordersS Naudion, S Moutton, I Coupry, et al.
American Journal of Medical Genetics|October 26, 2000
9th international workshop on fragile X syndrome and X-linked mental retardationJ P Fryns, M Borghgraef, T W Brown, et al.
Human Molecular Genetics|April 18, 1998
Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutationD J Marsh, V Coulon, K L Lunetta, et al.
The British Journal of Dermatology|August 25, 2018
Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patientsD Bessis, F Morice-Picard, E Bourrat, et al.
Clinical Genetics|March 16, 2017
Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutationsN Lehman, A C Mazery, A Visier, et al.
Clinical Genetics|September 17, 2013
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmiaN Chassaing, A Causse, A Vigouroux, et al.
The British Journal of Dermatology|November 13, 2018
Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutationD Bessis, J Miquel, E Bourrat, et al.
Pageof 23

Showing results (211-220 of 225) with videos related to

Sort By:
Pageof 23
BMC Health Services Research|April 21, 2023
Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French settingA L Soilly, C Robert-Viard, C Besse, et al.
European Journal of Human Genetics : EJHG|November 5, 1998
Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicismG Karadima, M Bugge, P Nicolaidis, et al.
Annales De Genetique|January 1, 1997
Collaborative study of mosaic tetrasomy 12p or Pallister-Killian syndrome (nineteen fetuses or children)M Mathieu, C Piussan, F Thepot, et al.
Clinical Genetics|September 26, 2015
Fetal phenotypes in otopalatodigital spectrum disordersS Naudion, S Moutton, I Coupry, et al.
American Journal of Medical Genetics|October 26, 2000
9th international workshop on fragile X syndrome and X-linked mental retardationJ P Fryns, M Borghgraef, T W Brown, et al.
Human Molecular Genetics|April 18, 1998
Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutationD J Marsh, V Coulon, K L Lunetta, et al.
The British Journal of Dermatology|August 25, 2018
Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patientsD Bessis, F Morice-Picard, E Bourrat, et al.
Clinical Genetics|March 16, 2017
Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutationsN Lehman, A C Mazery, A Visier, et al.
Clinical Genetics|September 17, 2013
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmiaN Chassaing, A Causse, A Vigouroux, et al.
The British Journal of Dermatology|November 13, 2018
Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutationD Bessis, J Miquel, E Bourrat, et al.
Pageof 23