J. Schmidtke

发表

Detection of mutations in the COL4A5 gene by SSCP in X‐linked Alport syndrome

G. Matthijs, J. Schmidtke, N. Gregersen, 2001, Human mutation.

Body weight gain induced by atypical antipsychotics: an extension of the monocygotic twin and sib pair study

J. Hebebrand, H. Remschmidt, S. Gebhardt, 2010, Journal of clinical pharmacy and therapeutics.

Independent observation of SRY mutation I90M in a patient with complete gonadal dysgenesis

T. Dörk, M. Stuhrmann, Konstantin Miller, 1998, Human Mutation.

Conceptualization and Implementation of the Central Information Portal on Rare Diseases: Protocol for a Qualitative Study

Ana Babac, Svenja Litzkendorf, Martin Frank, 2018, JMIR research protocols.

Cystic fibrosis patients bearing both the common missense mutation Gly----Asp at codon 551 and the delta F508 mutation are clinically indistinguishable from delta F508 homozygotes, except for decreased risk of meconium ileus.

M. Corey, L. Tsui, T. Dörk, 1992, American journal of human genetics.

A cystic fibrosis patient homozygous for the nonsense mutation R553X.

J. Reiss, M. Stuhrmann, M. Schloesser, 1991, Journal of medical genetics.

Testis-specific protein, Y-encoded (TSPY) expression in testicular tissues.

T. Dörk, J. Schmidtke, T. Vogel, 1996, Human molecular genetics.

Lpphoq tes and Nasal Epithelial Cells From Cystic Fibrosis Patients

K. Will, M. Stuhrmann, H. Ellemunter, 2005 .

A New Missense Substitution at a Mutational Hot Spot of the Androgen Receptor in SiblingsWith Complete Androgen Insensitivity Syndrome

T. Dörk, P. Wieacker, S. Jakubiczka, 1998, Human Mutation.