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Christine Fauth

Showing results (41-50 of 61) with videos related to

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Human Genetics|January 6, 2006
Micro-array analyses decipher exceptional complex familial chromosomal rearrangementChristine Fauth, Susan M Gribble, Keith M Porter, et al.
American Journal of Medical Genetics. Part A|November 7, 2015
A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2Christine Fauth, Katharina Steindl, Annick Toutain, et al.
Orphanet Journal of Rare Diseases|June 13, 2015
ALG8-CDG: novel patients and review of the literatureMichaela Höck, Karina Wegleiter, Elisabeth Ralser, et al.
American Journal of Medical Genetics. Part A|June 28, 2006
Pre- and postnatal findings in trisomy 17 mosaicismBarbara Utermann, Mariluce Riegel, Dru Leistritz, et al.
European Journal of Human Genetics : EJHG|May 28, 2015
High prevalence of BRCA1 stop mutation c.4183C>T in the Tyrolean population: implications for genetic testingLaura Pölsler, Heidi Fiegl, Katharina Wimmer, et al.
The Journal of Pediatrics|July 24, 2013
Single-nucleotide polymorphism array-based characterization of ring chromosome 18Ana Spreiz, Roberta S Guilherme, Claudio Castellan, et al.
American Journal of Human Genetics|March 20, 2012
Mutations in ROGDI Cause Kohlschütter-Tönz SyndromeAnna Schossig, Nicole I Wolf, Christine Fischer, et al.
American Journal of Human Genetics|January 24, 2012
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing lossMatthias Baumann, Cecilia Giunta, Birgit Krabichler, et al.
European Journal of Human Genetics : EJHG|October 21, 2020
The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsideredJulia Brinkmann, Christina Lissewski, Valentina Pinna, et al.
Journal of Medical Genetics|August 19, 2018
Bi-allelic mutations in <i>TRAPPC2L</i> result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblastsMiroslav P Milev, Claudio Graziano, Daniela Karall, et al.
Pageof 7

Showing results (41-50 of 61) with videos related to

Sort By:
Pageof 7
Human Genetics|January 6, 2006
Micro-array analyses decipher exceptional complex familial chromosomal rearrangementChristine Fauth, Susan M Gribble, Keith M Porter, et al.
American Journal of Medical Genetics. Part A|November 7, 2015
A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2Christine Fauth, Katharina Steindl, Annick Toutain, et al.
Orphanet Journal of Rare Diseases|June 13, 2015
ALG8-CDG: novel patients and review of the literatureMichaela Höck, Karina Wegleiter, Elisabeth Ralser, et al.
American Journal of Medical Genetics. Part A|June 28, 2006
Pre- and postnatal findings in trisomy 17 mosaicismBarbara Utermann, Mariluce Riegel, Dru Leistritz, et al.
European Journal of Human Genetics : EJHG|May 28, 2015
High prevalence of BRCA1 stop mutation c.4183C>T in the Tyrolean population: implications for genetic testingLaura Pölsler, Heidi Fiegl, Katharina Wimmer, et al.
The Journal of Pediatrics|July 24, 2013
Single-nucleotide polymorphism array-based characterization of ring chromosome 18Ana Spreiz, Roberta S Guilherme, Claudio Castellan, et al.
American Journal of Human Genetics|March 20, 2012
Mutations in ROGDI Cause Kohlschütter-Tönz SyndromeAnna Schossig, Nicole I Wolf, Christine Fischer, et al.
American Journal of Human Genetics|January 24, 2012
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing lossMatthias Baumann, Cecilia Giunta, Birgit Krabichler, et al.
European Journal of Human Genetics : EJHG|October 21, 2020
The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsideredJulia Brinkmann, Christina Lissewski, Valentina Pinna, et al.
Journal of Medical Genetics|August 19, 2018
Bi-allelic mutations in <i>TRAPPC2L</i> result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblastsMiroslav P Milev, Claudio Graziano, Daniela Karall, et al.
Pageof 7