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L Potocki

Showing results (11-20 of 20) with videos related to

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Clinical Genetics|March 21, 2002
Trisomy 17p10-p12 resulting from a supernumerary marker chromosome derived from chromosome 17: molecular analysis and delineation of the phenotypeP Stankiewicz, S S Parka, S E Holder, et al.
American Journal of Human Genetics|February 11, 1999
DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndromeL Potocki, K S Chen, T Koeuth, et al.
American Journal of Medical Genetics|March 29, 1996
Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)F Greenberg, R A Lewis, L Potocki, et al.
Nature Genetics|December 30, 1999
Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletionL Potocki, K S Chen, S S Park, et al.
Human Genetics|December 1, 1996
Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patientsB J Trask, H Mefford, G van den Engh, et al.
Human Genetics|December 6, 2001
Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndromeN Liburd, M Ghosh, S Riazuddin, et al.
Brain : a Journal of Neurology|February 5, 2003
Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth diseaseA Jordanova, P De Jonghe, C F Boerkoel, et al.
Journal of Medical Genetics|March 18, 2009
Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disordersS Ben-Shachar, B Lanpher, J R German, et al.
Journal of Medical Genetics|September 25, 2008
20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficitsS R Lalani, J V Thakuria, G F Cox, et al.
Journal of Medical Genetics|April 7, 2009
Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and functionF Lacbawan, B D Solomon, E Roessler, et al.
Pageof 2

Showing results (11-20 of 20) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 20 results.
Clinical Genetics|March 21, 2002
Trisomy 17p10-p12 resulting from a supernumerary marker chromosome derived from chromosome 17: molecular analysis and delineation of the phenotypeP Stankiewicz, S S Parka, S E Holder, et al.
American Journal of Human Genetics|February 11, 1999
DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndromeL Potocki, K S Chen, T Koeuth, et al.
American Journal of Medical Genetics|March 29, 1996
Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)F Greenberg, R A Lewis, L Potocki, et al.
Nature Genetics|December 30, 1999
Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletionL Potocki, K S Chen, S S Park, et al.
Human Genetics|December 1, 1996
Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patientsB J Trask, H Mefford, G van den Engh, et al.
Human Genetics|December 6, 2001
Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndromeN Liburd, M Ghosh, S Riazuddin, et al.
Brain : a Journal of Neurology|February 5, 2003
Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth diseaseA Jordanova, P De Jonghe, C F Boerkoel, et al.
Journal of Medical Genetics|March 18, 2009
Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disordersS Ben-Shachar, B Lanpher, J R German, et al.
Journal of Medical Genetics|September 25, 2008
20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficitsS R Lalani, J V Thakuria, G F Cox, et al.
Journal of Medical Genetics|April 7, 2009
Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and functionF Lacbawan, B D Solomon, E Roessler, et al.
Pageof 2