Search research articles
Contact Us
Filters
Showing results (1-10 of 73) with videos related to
Page
of 8
Sort By:
Acta Dermato-Venereologica
|
August 19, 2008
Segmentally arranged basaloid follicular hamartomas with osseous, dental and cerebral anomalies: a distinct syndrome
Rudolf Happle, Sigrid Tinschert
American Journal of Medical Genetics. Part A
|
February 26, 2013
High-level somatic mosaicism of AKT1 c.49G>A mutation in skin scrapings from epidermal nevi enables non-invasive molecular diagnosis in patients with Proteus syndrome
Ilse Wieland, Sigrid Tinschert, Martin Zenker
The Journal of Craniofacial Surgery
|
December 3, 2011
Asymmetric, disproportionate craniofacial hyperostoses of mosaic pattern in a patient not meeting Proteus syndrome criteria
Nicolai Adolphs, Horst Menneking, Bodo Hoffmeister, et al.
Journal of Cranio-Maxillo-Facial Surgery : Official Publication of the European Association for Cranio-Maxillo-Facial Surgery
|
November 24, 2004
Craniofacial hyperostoses in Proteus syndrome -- a case report
Nicolai Adolphs, Sigrid Tinschert, Jürgen Bier, et al.
European Journal of Pediatrics
|
November 24, 2004
Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion
Konrad Oexle, Barbara Thamm-Mücke, Thomas Mayer, et al.
American Journal of Medical Genetics. Part A
|
March 3, 2004
Dyschromatosis universalis hereditaria: familial case and ultrastructural skin investigation
Ulrike A Nuber, Sigrid Tinschert, Stefan Mundlos, et al.
European Journal of Dermatology : EJD
|
March 1, 2003
Melorheostosis with ipsilateral nevus sebaceus (didymosis melorheosebacea)
Sigrid Tinschert, Anette Stein, Burkhard Göldner, et al.
Acta Dermato-Venereologica
|
January 17, 2018
A Postzygotic SMO Mutation Caused the Original Case of Happle-Tinschert Syndrome
Martin Zenker, Sigrid Tinschert, Ilse Wieland, et al.
Cells
|
February 25, 2023
Congenital Microcephaly: A Debate on Diagnostic Challenges and Etiological Paradigm of the Shift from Isolated/Non-Syndromic to Syndromic Microcephaly
Maria Asif, Uzma Abdullah, Peter Nürnberg, et al.
Investigative Ophthalmology & Visual Science
|
November 6, 2010
A homozygous microdeletion within ADAMTSL4 in patients with isolated ectopia lentis: evidence of a founder mutation
Teresa M Neuhann, Juliane Artelt, Thomas F Neuhann, et al.
Page
of 8
Search research articles
Search
Showing results (1-10 of 73) with videos related to
Sort By:
Page
of 8
Acta Dermato-Venereologica
|
August 19, 2008
Segmentally arranged basaloid follicular hamartomas with osseous, dental and cerebral anomalies: a distinct syndrome
Rudolf Happle, Sigrid Tinschert
American Journal of Medical Genetics. Part A
|
February 26, 2013
High-level somatic mosaicism of AKT1 c.49G>A mutation in skin scrapings from epidermal nevi enables non-invasive molecular diagnosis in patients with Proteus syndrome
Ilse Wieland, Sigrid Tinschert, Martin Zenker
The Journal of Craniofacial Surgery
|
December 3, 2011
Asymmetric, disproportionate craniofacial hyperostoses of mosaic pattern in a patient not meeting Proteus syndrome criteria
Nicolai Adolphs, Horst Menneking, Bodo Hoffmeister, et al.
Journal of Cranio-Maxillo-Facial Surgery : Official Publication of the European Association for Cranio-Maxillo-Facial Surgery
|
November 24, 2004
Craniofacial hyperostoses in Proteus syndrome -- a case report
Nicolai Adolphs, Sigrid Tinschert, Jürgen Bier, et al.
European Journal of Pediatrics
|
November 24, 2004
Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion
Konrad Oexle, Barbara Thamm-Mücke, Thomas Mayer, et al.
American Journal of Medical Genetics. Part A
|
March 3, 2004
Dyschromatosis universalis hereditaria: familial case and ultrastructural skin investigation
Ulrike A Nuber, Sigrid Tinschert, Stefan Mundlos, et al.
European Journal of Dermatology : EJD
|
March 1, 2003
Melorheostosis with ipsilateral nevus sebaceus (didymosis melorheosebacea)
Sigrid Tinschert, Anette Stein, Burkhard Göldner, et al.
Acta Dermato-Venereologica
|
January 17, 2018
A Postzygotic SMO Mutation Caused the Original Case of Happle-Tinschert Syndrome
Martin Zenker, Sigrid Tinschert, Ilse Wieland, et al.
Cells
|
February 25, 2023
Congenital Microcephaly: A Debate on Diagnostic Challenges and Etiological Paradigm of the Shift from Isolated/Non-Syndromic to Syndromic Microcephaly
Maria Asif, Uzma Abdullah, Peter Nürnberg, et al.
Investigative Ophthalmology & Visual Science
|
November 6, 2010
A homozygous microdeletion within ADAMTSL4 in patients with isolated ectopia lentis: evidence of a founder mutation
Teresa M Neuhann, Juliane Artelt, Thomas F Neuhann, et al.
Page
of 8