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D T Pilz

Showing results (11-20 of 31) with videos related to

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Journal of Medical Genetics|April 1, 1995
Detecting deletions in the critical region for lissencephaly on 17p13.3 using fluorescent in situ hybridisation and a PCR assay identifying a dinucleotide repeat polymorphismD T Pilz, A Dalton, A Long, et al.
American Journal of Medical Genetics. Part A|September 24, 2004
Anophthalmia-esophageal-genital syndrome: a further case to define the phenotypeClare J Hill, D T Pilz, P S Harper, et al.
Journal of Medical Genetics|February 21, 2008
High frequency of genomic deletions--and a duplication--in the LIS1 gene in lissencephaly: implications for molecular diagnosisD Mei, R Lewis, E Parrini, et al.
Journal of Medical Genetics|May 24, 2005
Disruption of TCBA1 associated with a de novo t(1;6)(q32.2;q22.3) presenting in a child with developmental delay and recurrent infectionsY Yue, K Stout, B Grossmann, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 23, 2001
Fluorescence in situ hybridization analysis with LIS1 specific probes reveals a high deletion mutation rate in isolated lissencephaly sequenceD T Pilz, M E Macha, K S Precht, et al.
Human Molecular Genetics|August 11, 1999
Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1D T Pilz, J Kuc, N Matsumoto, et al.
Brain : a Journal of Neurology|November 8, 2005
Leucodysplasia, microcephaly, cerebral malformation (LMC): a novel recessive disorder linked to 2p16K E Chandler, A Del Rio, K Rakshi, et al.
American Journal of Human Genetics|February 1, 1997
Sequence variation at the phenylalanine hydroxylase gene in the British IslesL A Tyfield, A Stephenson, F Cockburn, et al.
Neurology|August 3, 1999
Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephalyW B Dobyns, C L Truwit, M E Ross, et al.
Annals of Neurology|February 16, 1999
Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephalyA Fogli, R Guerrini, F Moro, et al.
Pageof 4

Showing results (11-20 of 31) with videos related to

Sort By:
Pageof 4
Journal of Medical Genetics|April 1, 1995
Detecting deletions in the critical region for lissencephaly on 17p13.3 using fluorescent in situ hybridisation and a PCR assay identifying a dinucleotide repeat polymorphismD T Pilz, A Dalton, A Long, et al.
American Journal of Medical Genetics. Part A|September 24, 2004
Anophthalmia-esophageal-genital syndrome: a further case to define the phenotypeClare J Hill, D T Pilz, P S Harper, et al.
Journal of Medical Genetics|February 21, 2008
High frequency of genomic deletions--and a duplication--in the LIS1 gene in lissencephaly: implications for molecular diagnosisD Mei, R Lewis, E Parrini, et al.
Journal of Medical Genetics|May 24, 2005
Disruption of TCBA1 associated with a de novo t(1;6)(q32.2;q22.3) presenting in a child with developmental delay and recurrent infectionsY Yue, K Stout, B Grossmann, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 23, 2001
Fluorescence in situ hybridization analysis with LIS1 specific probes reveals a high deletion mutation rate in isolated lissencephaly sequenceD T Pilz, M E Macha, K S Precht, et al.
Human Molecular Genetics|August 11, 1999
Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1D T Pilz, J Kuc, N Matsumoto, et al.
Brain : a Journal of Neurology|November 8, 2005
Leucodysplasia, microcephaly, cerebral malformation (LMC): a novel recessive disorder linked to 2p16K E Chandler, A Del Rio, K Rakshi, et al.
American Journal of Human Genetics|February 1, 1997
Sequence variation at the phenylalanine hydroxylase gene in the British IslesL A Tyfield, A Stephenson, F Cockburn, et al.
Neurology|August 3, 1999
Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephalyW B Dobyns, C L Truwit, M E Ross, et al.
Annals of Neurology|February 16, 1999
Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephalyA Fogli, R Guerrini, F Moro, et al.
Pageof 4