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M Opitz

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American Journal of Medical Genetics. Part A|February 1, 2017
A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmusP Dunn, G P Prigatano, S Szelinger, et al.
American Journal of Medical Genetics. Part A|November 24, 2004
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutationsJoyce So, Vanessa Suckow, Zofia Kijas, et al.
American Journal of Medical Genetics|October 26, 1999
Polytopic anomalies with agenesis of the lower vertebral columnA Bohring, S O Lewin, J F Reynolds, et al.
Cytogenetics and Cell Genetics|January 1, 1979
International system for human gene nomenclature (1979) ISGN (1979)T B Shows, C A Alper, D Bootsma, et al.
Birth Defects Original Article Series|January 1, 1980
International System for Human Gene Nomenclature (1979) ISGN (1979)T B Shows, C A Alper, D Bootsma, et al.
Nature Genetics|March 2, 2011
Mutations in the pre-replication complex cause Meier-Gorlin syndromeLouise S Bicknell, Ernie M H F Bongers, Andrea Leitch, et al.
American Journal of Human Genetics|June 25, 2011
Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiencyAlan F Rope, Kai Wang, Rune Evjenth, et al.
American Journal of Medical Genetics. Part A|February 8, 2024
Personal journeys to and in human genetics and dysmorphologyCharles E Schwartz, Arthur S Aylsworth, Judith Allanson, et al.
European Journal of Human Genetics : EJHG|February 16, 2012
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosisSonja A de Munnik, Louise S Bicknell, Salim Aftimos, et al.
American Journal of Medical Genetics. Part A|October 2, 2012
Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorderSonja A de Munnik, Barto J Otten, Jeroen Schoots, et al.
Pageof 52

Showing results (511-520 of 520) with videos related to

Sort By:
Pageof 52
You have reached the last page of results.This site can display upto 520 results.
American Journal of Medical Genetics. Part A|February 1, 2017
A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmusP Dunn, G P Prigatano, S Szelinger, et al.
American Journal of Medical Genetics. Part A|November 24, 2004
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutationsJoyce So, Vanessa Suckow, Zofia Kijas, et al.
American Journal of Medical Genetics|October 26, 1999
Polytopic anomalies with agenesis of the lower vertebral columnA Bohring, S O Lewin, J F Reynolds, et al.
Cytogenetics and Cell Genetics|January 1, 1979
International system for human gene nomenclature (1979) ISGN (1979)T B Shows, C A Alper, D Bootsma, et al.
Birth Defects Original Article Series|January 1, 1980
International System for Human Gene Nomenclature (1979) ISGN (1979)T B Shows, C A Alper, D Bootsma, et al.
Nature Genetics|March 2, 2011
Mutations in the pre-replication complex cause Meier-Gorlin syndromeLouise S Bicknell, Ernie M H F Bongers, Andrea Leitch, et al.
American Journal of Human Genetics|June 25, 2011
Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiencyAlan F Rope, Kai Wang, Rune Evjenth, et al.
American Journal of Medical Genetics. Part A|February 8, 2024
Personal journeys to and in human genetics and dysmorphologyCharles E Schwartz, Arthur S Aylsworth, Judith Allanson, et al.
European Journal of Human Genetics : EJHG|February 16, 2012
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosisSonja A de Munnik, Louise S Bicknell, Salim Aftimos, et al.
American Journal of Medical Genetics. Part A|October 2, 2012
Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorderSonja A de Munnik, Barto J Otten, Jeroen Schoots, et al.
Pageof 52