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Journal of Medical Genetics|January 8, 2008
Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesisB W M van Bon, D A Koolen, R Borgatti, et al.Journal of Medical Genetics|February 9, 1999
Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutationsS Bunge, A Knigge, C Steglich, et al.Journal of Medical Genetics|February 9, 1999
A small interstitial deletion in the GPC3 gene causes Simpson-Golabi-Behmel syndrome in a Dutch-Canadian familyJ Y Xuan, R M Hughes-Benzie, A E MacKenzieJournal of Medical Genetics|February 9, 1999
Familial adenomatous polyposis associated with multiple adrenal adenomas in a patient with a rare 3' APC mutationA Kartheuser, C Walon, S West, et al.Journal of Medical Genetics|February 9, 1999
Duplication of segment 1p21 following paternal insertional translocation, ins(6;1)(q25;p13.3p22.1)A Utkus, I Sorokina, V Kucinskas, et al.Journal of Medical Genetics|February 9, 1999
Molecular and cytogenetic characterisation of an unusual case of partial trisomy/partial monosomy 13 mosaicism: 46,XX,r(13)(p11q14)/46,XX,der(13)t(13;13)(q10;q14)M Gentile, A L Buonadonna, F Cariola, et al.Journal of Medical Genetics|February 12, 2002
Current status of human chromosome 14D Kamnasaran, D W CoxJournal of Medical Genetics|February 5, 2008
Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) robustly detects and distinguishes 11p15 abnormalities associated with overgrowth and growth retardationR H Scott, J Douglas, L Baskcomb, et al.Journal of Medical Genetics|December 7, 2007
GATA4 sequence variants in patients with congenital heart diseaseA Tomita-Mitchell, C L Maslen, C D Morris, et al.Journal of Medical Genetics|December 7, 2007
A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1alphaF R Zahir, A Baross, A D Delaney, et al.Pageof 649