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W B Dobyns

Showing results (71-80 of 151) with videos related to

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American Journal of Medical Genetics|April 1, 1986
Familial Miller-Dieker syndrome associated with pericentric inversion of chromosome 17F Greenberg, R F Stratton, L H Lockhart, et al.
Neurology|October 29, 2003
Mosaic mutations of the LIS1 gene cause subcortical band heterotopiaF Sicca, A Kelemen, P Genton, et al.
Neuropediatrics|April 1, 1996
Cobblestone lissencephaly with normal eyes and muscleW B Dobyns, M A Patton, R F Stratton, et al.
Human Molecular Genetics|February 1, 1997
Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndromeC Lo Nigro, C S Chong, A C Smith, et al.
American Journal of Medical Genetics|November 6, 1995
Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomaliesL A Schimmenti, M E Pierpont, B L Carpenter, et al.
Journal of Medical Genetics|June 17, 2003
Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasiaN Philip, B Chabrol, A-M Lossi, 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.
Neurology|May 30, 2002
Males with epilepsy, complete subcortical band heterotopia, and somatic mosaicism for DCXN P Poolos, S Das, G D Clark, et al.
American Journal of Medical Genetics|July 3, 1995
Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardationJ C Ramer, A E Lin, W B Dobyns, et al.
Neurology|February 1, 1991
Epidermal nevus syndrome: a neurologic variant with hemimegalencephaly, gyral malformation, mental retardation, seizures, and facial hemihypertrophyL Pavone, P Curatolo, R Rizzo, et al.
Pageof 16

Showing results (71-80 of 151) with videos related to

Sort By:
Pageof 16
American Journal of Medical Genetics|April 1, 1986
Familial Miller-Dieker syndrome associated with pericentric inversion of chromosome 17F Greenberg, R F Stratton, L H Lockhart, et al.
Neurology|October 29, 2003
Mosaic mutations of the LIS1 gene cause subcortical band heterotopiaF Sicca, A Kelemen, P Genton, et al.
Neuropediatrics|April 1, 1996
Cobblestone lissencephaly with normal eyes and muscleW B Dobyns, M A Patton, R F Stratton, et al.
Human Molecular Genetics|February 1, 1997
Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndromeC Lo Nigro, C S Chong, A C Smith, et al.
American Journal of Medical Genetics|November 6, 1995
Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomaliesL A Schimmenti, M E Pierpont, B L Carpenter, et al.
Journal of Medical Genetics|June 17, 2003
Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasiaN Philip, B Chabrol, A-M Lossi, 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.
Neurology|May 30, 2002
Males with epilepsy, complete subcortical band heterotopia, and somatic mosaicism for DCXN P Poolos, S Das, G D Clark, et al.
American Journal of Medical Genetics|July 3, 1995
Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardationJ C Ramer, A E Lin, W B Dobyns, et al.
Neurology|February 1, 1991
Epidermal nevus syndrome: a neurologic variant with hemimegalencephaly, gyral malformation, mental retardation, seizures, and facial hemihypertrophyL Pavone, P Curatolo, R Rizzo, et al.
Pageof 16