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David L Rimoin

Showing results (51-60 of 78) with videos related to

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American Journal of Human Genetics|April 3, 2012
Exome sequencing identifies PDE4D mutations in acrodysostosisHane Lee, John M Graham, David L Rimoin, et al.
Prenatal Diagnosis|June 9, 2012
Clubfeet and associated abnormalities on fetal magnetic resonance imagingUrsula Nemec, Stefan F Nemec, Gregor Kasprian, et al.
European Journal of Radiology|May 21, 2011
Ovarian cysts on prenatal MRIUrsula Nemec, Stefan F Nemec, Dieter Bettelheim, et al.
Radiology|February 9, 2013
Human long bone development in vivo: analysis of the distal femoral epimetaphysis on MR images of fetusesUrsula Nemec, Stefan F Nemec, Michael Weber, et al.
Journal of Perinatal Medicine|June 3, 2011
Abnormalities of the penis in utero--hypospadias on fetal MRIStefan F Nemec, Gregor Kasprian, Peter C Brugger, et al.
American Journal of Human Genetics|September 28, 2010
BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencingVincent A Funari, Deborah Krakow, Lisette Nevarez, et al.
Prenatal Diagnosis|March 5, 2011
Fetal akinesia and associated abnormalities on prenatal MRIStefan F Nemec, Romana Höftberger, Ursula Nemec, et al.
American Journal of Medical Genetics. Part A|February 5, 2003
Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated familiesRavi Savarirayan, Susan M White, Frances R Goodman, et al.
European Journal of Radiology|February 15, 2011
Tumor disease and associated congenital abnormalities on prenatal MRIStefan F Nemec, Ernst Horcher, Gregor Kasprian, et al.
American Journal of Human Genetics|December 27, 2008
A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecanStuart W Tompson, Barry Merriman, Vincent A Funari, et al.
Pageof 8

Showing results (51-60 of 78) with videos related to

Sort By:
Pageof 8
American Journal of Human Genetics|April 3, 2012
Exome sequencing identifies PDE4D mutations in acrodysostosisHane Lee, John M Graham, David L Rimoin, et al.
Prenatal Diagnosis|June 9, 2012
Clubfeet and associated abnormalities on fetal magnetic resonance imagingUrsula Nemec, Stefan F Nemec, Gregor Kasprian, et al.
European Journal of Radiology|May 21, 2011
Ovarian cysts on prenatal MRIUrsula Nemec, Stefan F Nemec, Dieter Bettelheim, et al.
Radiology|February 9, 2013
Human long bone development in vivo: analysis of the distal femoral epimetaphysis on MR images of fetusesUrsula Nemec, Stefan F Nemec, Michael Weber, et al.
Journal of Perinatal Medicine|June 3, 2011
Abnormalities of the penis in utero--hypospadias on fetal MRIStefan F Nemec, Gregor Kasprian, Peter C Brugger, et al.
American Journal of Human Genetics|September 28, 2010
BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencingVincent A Funari, Deborah Krakow, Lisette Nevarez, et al.
Prenatal Diagnosis|March 5, 2011
Fetal akinesia and associated abnormalities on prenatal MRIStefan F Nemec, Romana Höftberger, Ursula Nemec, et al.
American Journal of Medical Genetics. Part A|February 5, 2003
Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated familiesRavi Savarirayan, Susan M White, Frances R Goodman, et al.
European Journal of Radiology|February 15, 2011
Tumor disease and associated congenital abnormalities on prenatal MRIStefan F Nemec, Ernst Horcher, Gregor Kasprian, et al.
American Journal of Human Genetics|December 27, 2008
A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecanStuart W Tompson, Barry Merriman, Vincent A Funari, et al.
Pageof 8