Publications by authors named "Beate Mitulla"

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New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas.
Wolfram Heinritz, Ulrike Hüffmeier, Sibylle Strenge, Bianca Miterski, Christiane Zweier, Beate Mitulla

Ann Hum Genet· May 2009

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Mutation of the highly conserved cysteine residue 131 of the SCA14 associated PRKCG gene in a family with slow progressive cerebellar ataxia.
Andreas Dalski, Beate Mitulla, Katrin Bürk, Christoph Schattenfroh, Eberhard Schwinger

J Neurol· August 2006

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Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification.
Christiane Tasse, Stefan Böhringer, Sven Fischer, Hermann-Josef Lüdecke, Beate Albrecht, Beate Mitulla

Eur J Med Genet· February 2006

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Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis.
Peter N Robinson, Luitgard M Neumann, Stephanie Demuth, Herbert Enders, Ursula Jung, Beate Mitulla

Am J Med Genet A· June 2005

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Subtelomere FISH in 50 children with mental retardation and minor anomalies, identified by a checklist, detects 10 rearrangements including a de novo balanced translocation of chromosomes 17p13.3 and 20q13.33.
Sabine Walter, Klaus Sandig, Georg K Hinkel, Beate Mitulla, Katrin Ounap

Am J Med Genet A· August 2004

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Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification.
Heike Starke, Angela Nietzel, Anja Weise, Anita Heller, Kristin Mrasek, Beate Mitulla

Hum Genet· December 2003

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First postnatal case of mosaic del(22)/r(22).
Heike Starke, Beate Mitulla, Volkmar Beensen, Vladimir Trifonov, Nikolai Rubtsov

Prenat Diagn· September 2003

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First patient with trisomy 21 accompanied by an additional der(4)(:p11 --> q11:) plus partial uniparental disomy 4p15-16.
Heike Starke, Beate Mitulla, Angela Nietzel, Anita Heller, Volkmar Beensen

Am J Med Genet A· January 2003

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"Mowat-Wilson" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene.
Christiane Zweier, Beate Albrecht, Beate Mitulla, Rolf Behrens, Maike Beese

Am J Med Genet· March 2002

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