R. Klatt

发表

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

Daniele Merico, Raveen Basran, Christian R Marshall, 2017, Genetics in Medicine.

This information is current as Immunodeficiency Virus Disease Progression Replication but Do Not Protect from Simian T Cells Reduce Virus + Virus-Specific CD8 Vaccine-Induced, Simian Immunodeficiency

J. Altman, S. Staprans, M. Feinberg, 2017 .

Expanding the clinical spectrum of ocular anomalies in Noonan syndrome: Axenfeld‐anomaly in a child with PTPN11 mutation

J. So, R. Klatt, Caitlin Chisholm, 2015, American journal of medical genetics. Part A.

Genotype–phenotype analysis of the branchio‐oculo‐facial syndrome

W. Reardon, G. Mortier, O. Klein, 2011, American journal of medical genetics. Part A.

Middle and inner ear malformations in mutation‐proven branchio‐oculo‐facial (BOF) syndrome: Case series and review of the literature

B. Papsin, W. Reardon, W. Meschino, 2012, American journal of medical genetics. Part A.

Rod bipolar cell dysfunction in POLG retinopathy

N. Sondheimer, A. Vincent, R. Klatt, 2020, Documenta Ophthalmologica.

Molecular breakpoint mapping of 6q11‐q14 interstitial deletions in seven patients

M. Shago, A. Teebi, P. Eydoux, 2009, American journal of medical genetics. Part A.

A deletion of FGFR2 creating a chimeric IIIb/IIIc exon in a child with Apert syndrome

A. Wilkie, S. Bowdin, A. Fenwick, 2011, BMC Medical Genetics.

Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification

C. Cytrynbaum, R. Weksberg, P. Ray, 2007, American journal of medical genetics. Part A.

Genotype–phenotype analysis of the branchio‐oculo‐facial syndrome

W. Reardon, G. Mortier, O. Klein, 2011, American journal of medical genetics. Part A.