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D T Pilz

Showing results (21-30 of 31) with videos related to

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American Journal of Medical Genetics. Part A|June 7, 2005
Distinct phenotype associated with a cryptic subtelomeric deletion of 19p13.3-pterH L Archer, S Gupta, S Enoch, et al.
Journal of Medical Genetics|January 20, 2017
Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with <i>de novo</i>, heterozygous, loss-of-function mutations in <i>ASXL3</i> and review of published literatureM Balasubramanian, J Willoughby, A E Fry, et al.
Clinical Genetics|June 9, 2011
Identification of five novel SPRED1 germline mutations in Legius syndromeS Laycock-van Spyk, H P Jim, L Thomas, et al.
Human Molecular Genetics|November 18, 1998
LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformationD T Pilz, N Matsumoto, S Minnerath, et al.
AJNR. American Journal of Neuroradiology|October 13, 2022
Distinctive Brain Malformations in Zhu-Tokita-Takenouchi-Kim SyndromeB J Halliday, G Baynam, L Ewans, et al.
Clinical Genetics|January 1, 1996
Down syndrome with partial duplication and del (21) syndrome: study protocol and call for collaboration. Study I: Clinical assessmentA J Barnicoat, J L Bonneau, E Boyd, et al.
European Journal of Human Genetics : EJHG|February 15, 2001
Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopiaN Matsumoto, R J Leventer, J A Kuc, et al.
Human Molecular Genetics|December 15, 2000
The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 geneC Cardoso, R J Leventer, N Matsumoto, et al.
American Journal of Medical Genetics. Part A|November 18, 2008
Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotypeT A Briggs, N I Wolf, S D'Arrigo, et al.
Autophagy|November 14, 2017
The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunityE Piano Mortari, V Folgiero, V Marcellini, et al.
Pageof 4

Showing results (21-30 of 31) with videos related to

Sort By:
Pageof 4
American Journal of Medical Genetics. Part A|June 7, 2005
Distinct phenotype associated with a cryptic subtelomeric deletion of 19p13.3-pterH L Archer, S Gupta, S Enoch, et al.
Journal of Medical Genetics|January 20, 2017
Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with <i>de novo</i>, heterozygous, loss-of-function mutations in <i>ASXL3</i> and review of published literatureM Balasubramanian, J Willoughby, A E Fry, et al.
Clinical Genetics|June 9, 2011
Identification of five novel SPRED1 germline mutations in Legius syndromeS Laycock-van Spyk, H P Jim, L Thomas, et al.
Human Molecular Genetics|November 18, 1998
LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformationD T Pilz, N Matsumoto, S Minnerath, et al.
AJNR. American Journal of Neuroradiology|October 13, 2022
Distinctive Brain Malformations in Zhu-Tokita-Takenouchi-Kim SyndromeB J Halliday, G Baynam, L Ewans, et al.
Clinical Genetics|January 1, 1996
Down syndrome with partial duplication and del (21) syndrome: study protocol and call for collaboration. Study I: Clinical assessmentA J Barnicoat, J L Bonneau, E Boyd, et al.
European Journal of Human Genetics : EJHG|February 15, 2001
Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopiaN Matsumoto, R J Leventer, J A Kuc, et al.
Human Molecular Genetics|December 15, 2000
The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 geneC Cardoso, R J Leventer, N Matsumoto, et al.
American Journal of Medical Genetics. Part A|November 18, 2008
Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotypeT A Briggs, N I Wolf, S D'Arrigo, et al.
Autophagy|November 14, 2017
The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunityE Piano Mortari, V Folgiero, V Marcellini, et al.
Pageof 4