D. Böhm

发表

Array CGH in molecular diagnosis of mental retardation—A study of 150 Finnish patients

S. Knuutila, S. Ala-Mello, L. Siggberg, 2010, American journal of medical genetics. Part A.

Targeted next generation sequencing as a diagnostic tool in epileptic disorders

S. Gallati, H. Lerche, M. Schubach, 2012, Epilepsia.

Biallelic loss of function of the promyelocytic leukaemia zinc finger (PLZF) gene causes severe skeletal defects and genital hypoplasia

D. Wieczorek, B. Horsthemke, D. Böhm, 2008, Journal of Medical Genetics.

Severe Phenotype in a Girl with Partial Tetrasomy 7, Karyotype 46,XX,trp(7)(q35q36)

J. Ritterbach, J. Kohlhase, D. Böhm, 2009, Cytogenetic and Genome Research.

Asthenoteratozoospermia in mice lacking testis expressed gene 18 (Tex18).

D. D. de Rooij, I. Adham, W. Engel, 2007, Molecular human reproduction.

Directed overexpression of insulin in Leydig cells causes a progressive loss of germ cells

S. Binder, I. Adham, W. Engel, 2008, Molecular and Cellular Endocrinology.

Multigene deletions on chromosome 20q13.13‐q13.2 including SALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delay

M. Bamshad, J. Graham, J. Kohlhase, 2007, Human mutation.

Isolation and characterization of differentially expressed genes in invasive and non-invasive immortalized murine male germ cells in vitro.

W. Engel, K. Nayernia, P. Burfeind, 2001, International journal of oncology.

Failure of phospholipid hydroperoxide glutathione peroxidase expression in oligoasthenozoospermia and mutations in the PHGPx gene

W. Engel, H. Glander, M. Diaconu, 2006, Andrologia.

TSPY Expression Is Variably Altered in Transgenic Mice with Testicular Feminization1

J. Schmidtke, I. Adham, W. Engel, 2008, Biology of reproduction.

A novel family-specific translocation t(2;20)(p24.1;q13.1) associated with recurrent abortions: molecular characterization and segregation analysis in male meiosis

T. Liehr, B. Zoll, P. Burfeind, 2002, Cytogenetic and Genome Research.

Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations

G. Mortier, R. Sandford, Bernhard Steiner, 2008, Nature Genetics.

Partial trisomy of distal 19q detected by quantitative real‐time PCR and FISH in a girl with mild facial dysmorphism, hypotonia and developmental delay

T. Liehr, B. Zoll, P. Burfeind, 2007, American journal of medical genetics. Part A.

Premature translation of transition protein 2 mRNA causes sperm abnormalities and male infertility

I. Adham, W. Engel, K. Nayernia, 2007, Molecular reproduction and development.

Association of Jacobsen syndrome and bipolar affective disorder in a patient with a de novo 11q terminal deletion

P. Dechent, J. Frahm, S. Bohlander, 2006, American journal of medical genetics. Part A.

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.

D. Horn, B. Gener, D. Lev, 2012, American journal of human genetics.

First non‐mosaic case of isopseudodicentric chromosome 18 (psu idic(18)(pter → q22.1::q22.1 → pter) Is associated with multiple congenital anomalies reminiscent of trisomy 18 and 18q− syndrome

C. Fauth, M. Speicher, R. Schindler, 2004, American journal of medical genetics. Part A.

Disruption of PLC-β1-Mediated Signal Transduction in Mutant Mice Causes Age-Dependent Hippocampal Mossy Fiber Sprouting and Neurodegeneration

W. Engel, K. Nayernia, P. Burfeind, 2002, Molecular and Cellular Neuroscience.

An Emerging 1q21.1 Deletion-Associated Neurodevelopmental Phenotype

L. Basel‐Vanagaite, J. Kohlhase, D. Böhm, 2011, Journal of child neurology.

Linkage of the DNA-segment D7S13 (pB79a) with the cystic fibrosis locus

J. Schmidtke, D. Böhm, M. Krawczak, 1988, Human Genetics.

Rat transition nuclear protein 2 regulatory region directs haploid expression of reporter gene in male germ cells of transgenic mice *

W. Engel, K. Nayernia, G. Schlüter, 2001, Molecular reproduction and development.

Biallelic loss of function of the promyelocytic leukaemia zinc finger (PLZF) gene causes severe skeletal defects and genital hypoplasia

D. Wieczorek, B. Horsthemke, D. Böhm, 2008, Journal of Medical Genetics.