J. Müsebeck

发表

Somatic FGFR3 and PIK3CA mutations are present in familial seborrhoeic keratoses

M. Landthaler, T. Vogt, C. Hafner, 2008, The British journal of dermatology.

The TMEM43 Newfoundland mutation p.S358L causing ARVC-5 was imported from Europe and increases the stiffness of the cell nucleus.

D. Judge, J. Mogensen, T. Šarić, 2015, European heart journal.

Molecular mechanisms underlying hemophilia A phenotype in seven females

J. Oldenburg, A. Pavlova, A. Srivastava, 2009, Journal of thrombosis and haemostasis : JTH.

Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient.

C. Rooryck, B. Arveiler, C. Roudaut, 2006, Pigment cell research.

Variants in CUL4B are Associated with Cerebral Malformations

A. V. Vulto-van Silfhout, L. Vissers, S. Haas, 2015, Human mutation.

Two further cases of WHS with unbalanced de novo translocation t(4;8) characterised by CGH and FISH

M. Volleth, H. Tönnies, L. Neumann, 2001, Journal of medical genetics.

Partial trisomy 9p12p21.3 with a normal phenotype

P. Wieacker, M. Volleth, I. Chudoba, 2002, Journal of medical genetics.

Short stature homeobox-containing gene deletion screening by fluorescence in situ hybridisation in patients with short stature

P. Wieacker, H. Tönnies, H. Neitzel, 2001, European Journal of Pediatrics.

Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function

E. Zackai, K. Clarkson, R. Hennekam, 2009, Journal of Medical Genetics.

Conspicuous GTG‐banding results of the centromere‐near region can be caused by alphoid DNA heteromorphism

T. Liehr, U. Claussen, A. Kuechler, 2003, Clinical genetics.

Somatic FGFR3 and PIK3CA mutations are present in familial seborrhoeic keratoses

M. Landthaler, T. Vogt, C. Hafner, 2008, The British journal of dermatology.