E. Pohl

发表

Embryonic stem cells produce neurotrophins in response to cerebral tissue extract: Cell line‐dependent differences

M. Molcanyi, J. Hescheler, E. Neugebauer, 2007, Journal of neuroscience research.

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

Annette Lee, W. Chung, R. Nussbaum, 2018, Human mutation.

Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish.

P. Frommolt, P. Nürnberg, J. Altmüller, 2012, American journal of human genetics.

The missing “link”: an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation

G. Nürnberg, P. Nürnberg, Filippo Beleggia, 2013, Human Genetics.

Erratum to: A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome

Filippo Beleggia, G. Yigit, B. Wollnik, 2013, Human Genetics.

A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome

Filippo Beleggia, G. Yigit, B. Wollnik, 2013, Human Genetics.

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

Martin S. Taylor, J. Aerts, M. Hurles, 2011, Nature Genetics.

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

K. Devriendt, J. Vermeesch, B. Gener, 2013, Human molecular genetics.

Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss.

J. Veltman, H. Kremer, Majida Charif, 2010, American journal of human genetics.

Gene panel testing of 5589 BRCA1/2‐negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer

Nina Ditsch, Peter Nürnberg, Dieter Niederacher, 2018, Cancer medicine.

RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome.

T. Meitinger, T. Strom, A. F. Stewart, 2015, The Journal of clinical investigation.

Clinical findings in patients with RAP 1 A / RAP 1 B mutations Symptom Frequency in KSA RAP 1 A patient RAP 1

T. Meitinger, T. Strom, A. F. Stewart, 2015 .

A mutation screen in patients with Kabuki syndrome

D. Wieczorek, Yun Li, G. Yigit, 2011, Human Genetics.

Mutations in CDK5RAP2 cause Seckel syndrome

H. Kayserili, G. Nürnberg, P. Nürnberg, 2015, Molecular genetics & genomic medicine.

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

Martin S. Taylor, J. Aerts, M. Hurles, 2011, Nature Genetics.