Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Christian T Thiel

Showing results (1-10 of 56) with videos related to

Pageof 6
Sort By:
Best Practice & Research. Clinical Endocrinology & Metabolism|March 15, 2011
The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrumChristian T Thiel, Anita Rauch
American Journal of Human Genetics|August 19, 2007
Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrumChristian T Thiel, Geert Mortier, Ilkka Kaitila, et al.
Iranian Journal of Pediatrics|June 25, 2013
Acanthosis nigricans, Abnormal Facial Appearance and Dentition in an Insulin Resistance SyndromeAhya Zaridoust, Ali Rabbani, Fatemeh Sayarifard, et al.
Clinical Dysmorphology|March 17, 2005
Exclusion of TCOF1 mutations in a case of bilateral Goldenhar syndrome and one familial case of microtia with meatal atresiaChristian T Thiel, Frank Rosanowski, Jürgen Kohlhase, et al.
American Journal of Medical Genetics. Part A|November 20, 2018
Microphthalmia is not a mandatory finding in X-linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85LeuCornelia Kraus, Steffen Uebe, Christian T Thiel, et al.
European Journal of Human Genetics : EJHG|March 14, 2003
A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPPChristian T Thiel, Cornelia Kraus, Anita Rauch, et al.
American Journal of Medical Genetics. Part A|September 9, 2020
A novel splice variant expands the LAMC3-associated cortical phenotype to frontal only polymicrogyria and adult-onset epilepsyBurkhard S Kasper, Cornelia Kraus, Michael Schwarz, et al.
European Journal of Medical Genetics|September 11, 2016
Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1Bernt Popp, Regina Trollmann, Christian Büttner, et al.
BMC Musculoskeletal Disorders|November 22, 2019
Camptocormia as the presenting symptom in sporadic late onset nemaline myopathy: a case reportMatthias Türk, Armin M Nagel, Frank Roemer, et al.
American Journal of Medical Genetics. Part A|May 14, 2011
The smallest teeth in the world are caused by mutations in the PCNT genePiranit Kantaputra, Pranoot Tanpaiboon, Thantrira Porntaveetus, et al.
Pageof 6

Showing results (1-10 of 56) with videos related to

Sort By:
Pageof 6
Best Practice & Research. Clinical Endocrinology & Metabolism|March 15, 2011
The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrumChristian T Thiel, Anita Rauch
American Journal of Human Genetics|August 19, 2007
Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrumChristian T Thiel, Geert Mortier, Ilkka Kaitila, et al.
Iranian Journal of Pediatrics|June 25, 2013
Acanthosis nigricans, Abnormal Facial Appearance and Dentition in an Insulin Resistance SyndromeAhya Zaridoust, Ali Rabbani, Fatemeh Sayarifard, et al.
Clinical Dysmorphology|March 17, 2005
Exclusion of TCOF1 mutations in a case of bilateral Goldenhar syndrome and one familial case of microtia with meatal atresiaChristian T Thiel, Frank Rosanowski, Jürgen Kohlhase, et al.
American Journal of Medical Genetics. Part A|November 20, 2018
Microphthalmia is not a mandatory finding in X-linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85LeuCornelia Kraus, Steffen Uebe, Christian T Thiel, et al.
European Journal of Human Genetics : EJHG|March 14, 2003
A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPPChristian T Thiel, Cornelia Kraus, Anita Rauch, et al.
American Journal of Medical Genetics. Part A|September 9, 2020
A novel splice variant expands the LAMC3-associated cortical phenotype to frontal only polymicrogyria and adult-onset epilepsyBurkhard S Kasper, Cornelia Kraus, Michael Schwarz, et al.
European Journal of Medical Genetics|September 11, 2016
Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1Bernt Popp, Regina Trollmann, Christian Büttner, et al.
BMC Musculoskeletal Disorders|November 22, 2019
Camptocormia as the presenting symptom in sporadic late onset nemaline myopathy: a case reportMatthias Türk, Armin M Nagel, Frank Roemer, et al.
American Journal of Medical Genetics. Part A|May 14, 2011
The smallest teeth in the world are caused by mutations in the PCNT genePiranit Kantaputra, Pranoot Tanpaiboon, Thantrira Porntaveetus, et al.
Pageof 6