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Journal of Medical Genetics
|
April 1, 1996
Syndromes with lissencephaly
D T Pilz, O W Quarrell
American Journal of Medical Genetics
|
September 25, 2001
Reply to Shaffer regarding reply to "Burning down DEFECT11"
L G Biesecker, D T Pilz, D Pelz
Genomics
|
March 3, 1999
Genomic structure, chromosomal mapping, and expression pattern of human DCAMKL1 (KIAA0369), a homologue of DCX (XLIS)
N Matsumoto, D T Pilz, D H Ledbetter
Eye (London, England)
|
January 1, 1997
Bilateral spontaneously regressed retinoblastoma with preservation of vision
B N Roberts, D T Pilz, R F Walters
Journal of Medical Genetics
|
March 8, 2003
Neuronal migration defect in a BRCA1 gene carrier: possible focal nullisomy?
D M Eccles, S Barker, D T Pilz, et al.
Developmental Medicine and Child Neurology
|
October 1, 2003
A3243G mitochondrial mutation associated with polymicrogyria
W T Keng, D T Pilz, B Minns, et al.
Journal of Medical Genetics
|
October 23, 1998
Isolation of BAC clones spanning the Xq22.3 translocation breakpoint in a lissencephaly patient with a de novo X;2 translocation
N Matsumoto, D T Pilz, J A Fantes, et al.
Clinical Dysmorphology
|
April 2, 2004
Two brothers with trichiasis, entropion and corneal scarring, sensorineural hearing loss, progressive thinning of scalp hair, mild learning difficulties and distinct facial features. A new syndrome?
C J Hill, C M Lane, C Long, et al.
Molecular Medicine Today
|
June 22, 2000
Lissencephaly and subcortical band heterotopia: molecular basis and diagnosis
R J Leventer, D T Pilz, N Matsumoto, et al.
Clinical Genetics
|
September 15, 2016
Baraitser-Winter cerebrofrontofacial syndrome
T M Yates, C L Turner, H V Firth, et al.
Page
of 4
Search research articles
Search
Showing results (1-10 of 31) with videos related to
Sort By:
Page
of 4
Journal of Medical Genetics
|
April 1, 1996
Syndromes with lissencephaly
D T Pilz, O W Quarrell
American Journal of Medical Genetics
|
September 25, 2001
Reply to Shaffer regarding reply to "Burning down DEFECT11"
L G Biesecker, D T Pilz, D Pelz
Genomics
|
March 3, 1999
Genomic structure, chromosomal mapping, and expression pattern of human DCAMKL1 (KIAA0369), a homologue of DCX (XLIS)
N Matsumoto, D T Pilz, D H Ledbetter
Eye (London, England)
|
January 1, 1997
Bilateral spontaneously regressed retinoblastoma with preservation of vision
B N Roberts, D T Pilz, R F Walters
Journal of Medical Genetics
|
March 8, 2003
Neuronal migration defect in a BRCA1 gene carrier: possible focal nullisomy?
D M Eccles, S Barker, D T Pilz, et al.
Developmental Medicine and Child Neurology
|
October 1, 2003
A3243G mitochondrial mutation associated with polymicrogyria
W T Keng, D T Pilz, B Minns, et al.
Journal of Medical Genetics
|
October 23, 1998
Isolation of BAC clones spanning the Xq22.3 translocation breakpoint in a lissencephaly patient with a de novo X;2 translocation
N Matsumoto, D T Pilz, J A Fantes, et al.
Clinical Dysmorphology
|
April 2, 2004
Two brothers with trichiasis, entropion and corneal scarring, sensorineural hearing loss, progressive thinning of scalp hair, mild learning difficulties and distinct facial features. A new syndrome?
C J Hill, C M Lane, C Long, et al.
Molecular Medicine Today
|
June 22, 2000
Lissencephaly and subcortical band heterotopia: molecular basis and diagnosis
R J Leventer, D T Pilz, N Matsumoto, et al.
Clinical Genetics
|
September 15, 2016
Baraitser-Winter cerebrofrontofacial syndrome
T M Yates, C L Turner, H V Firth, et al.
Page
of 4