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Beate Mitulla

Observed names: B Mitulla, B. Mitulla
OpenAlex ID: A5043243881
Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification
2005 · Christiane Tasse, Stefan Böhringer, et al. · European Journal of Medical Genetics · 218
Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification
2003 · Heike Starke, Angela Nietzel, et al. · Human Genetics · 163
Molecular Analysis of SALL1 Mutations in Townes-Brocks Syndrome
1999 · Jürgen Kohlhase, Peter E.M. Taschner, et al. · The American Journal of Human Genetics · 153
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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
2002 · Christiane Zweier, Beate Albrecht, et al. · American Journal of Medical Genetics · 128
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Shprintzen–Goldberg syndrome: Fourteen new patients and a clinical analysis
2005 · Peter N. Robinson, Luitgard M. Neumann, et al. · American Journal of Medical Genetics Part A · 87
Epidemiological data on Werdnig-Hoffmann disease in Germany (West-Th�ringen)
1993 · Andrea Thieme, Beate Mitulla, et al. · Human Genetics · 41
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
2004 · Sabine Walter, Klaus Sandig, et al. · American Journal of Medical Genetics Part A · 40
First prenatal diagnosis of acyl‐CoA oxidase deficiency
1990 · R. J. A. Wanders, A. Schelen, et al. · Journal of Inherited Metabolic Disease · 40
New Mutations of EXT1 and EXT2 Genes in German Patients with Multiple Osteochondromas
2009 · Wolfram Heinritz, Ulrike Hüffmeier, et al. · Annals of Human Genetics · 39
Xp-duplications with and without sex reversal
1996 · Annette Baumstark, Gotthold Barbi, et al. · Human Genetics · 39
Mutation of the highly conserved cysteine residue 131 of the SCA14 associated PRKCG gene in a family with slow progressive cerebellar ataxia
2006 · Andreas Dalski, Beate Mitulla, et al. · Journal of Neurology · 29
Chronic childhood spinal muscular atrophy in Germany (West-Th�ringen) ? an epidemiological study
1994 · Andrea Thieme, Beate Mitulla, et al. · Human Genetics · 22
First patient with trisomy 21 accompanied by an additional der(4)(:p11 → q11:) plus partial uniparental disomy 4p15‐16
2002 · Heike Starke, Beate Mitulla, et al. · American Journal of Medical Genetics Part A · 16
Screening of the SPTBN2 (SCA5) gene in German SCA patients
2007 · C. Zühlke, V. Bernard, et al. · Journal of Neurology · 13
First postnatal case of mosaic del(22)/r(22)
2003 · Heike Starke, Beate Mitulla, et al. · Prenatal Diagnosis · 6
[Crouzon syndrome (Mc K 12350)].
1991 · B Mitulla, G K Hinkel, et al. · PubMed · 4
Incidental prenatal detection of an Xp deletion using an anonymous primer pair for fetal sexing
2000 · Sibylle Jakubiczka, Beate Mitulla, et al. · Prenatal Diagnosis · 3
Genomische Diagnostik bei Hämophilie A und B -Ergebnisse einer multizentrischen zehnjährigen Zusammenarbeit
1997 · F. H. Herrmann, W. Schröder, et al. · Springer eBooks · 2
()ri(;inal Invi~sti(;ation
1996 · Annette Baumstark, Mahmoud Djalali, et al.
Works count: 19
Citation count: 1,043
H-index: 13
I10-index: 14
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