N. Bögershausen

发表

Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis

M. Ahmadian, E. Percin, B. Wollnik, 2016, Clinical genetics.

WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly

M. Spielmann, A. Zibat, J. Altmüller, 2022, Human mutation.

Mutational Landscapes and Phenotypic Spectrum of SWI/SNF-Related Intellectual Disability Disorders

B. Wollnik, N. Bögershausen, 2018, Front. Mol. Neurosci..

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X‐Linked Kabuki Syndrome Subtype 2

T. Meitinger, T. Strom, D. Wieczorek, 2016, Human mutation.

Unmasking Kabuki syndrome

B. Wollnik, N. Bögershausen, Bernd Wollnik, 2013, Clinical genetics.

Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.

C. Ober, R. Hegele, O. Suchowersky, 2013, American journal of human genetics.

Recessive TRAPPC 11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability

C. Ober, R. Hegele, O. Suchowersky, 2013 .

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.

A large duplication involving the IHH locus mimics acrocallosal syndrome

K. Grzeschik, H. Kayserili, G. Nürnberg, 2012, European Journal of Human Genetics.

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.

Update on the ACTG1‐associated Baraitser–Winter cerebrofrontofacial syndrome

A. Rump, W. Dobyns, J. Altmüller, 2016, American journal of medical genetics. Part A.

An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucity

H. Kayserili, P. Nürnberg, J. Altmüller, 2016, American journal of medical genetics. Part A.

A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous KATNB1 mutation

D. Wieczorek, P. Nürnberg, J. Altmüller, 2016, American Journal of Medical Genetics. Part A.

CHARGE and Kabuki syndromes: a phenotypic and molecular link.

B. Wollnik, K. Brockmann, B. Zoll, 2014, Human molecular genetics.

Floating-Harbor Syndrome: Presentation of The First Romanian Patient with a SRCAP Mutation and Review of The Literature

M. Budisteanu, B. Wollnik, M. Thoenes, 2018, Balkan journal of medical genetics : BJMG.

Mutations in CDK5RAP2 cause Seckel syndrome

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

Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study

D. Wieczorek, P. Nürnberg, J. Altmüller, 2021, American journal of medical genetics. Part A.

Skirting the pitfalls: a clear-cut nomenclature for H3K4 methyltransferases

E. Bruford, B. Wollnik, N. Bögershausen, 2012, Clinical genetics.

Response to Diaz

E. Bruford, B. Wollnik, N. Bögershausen, 2013, Clinical genetics.

Genomic basis of syndromic short stature in an Algerian patient cohort

P. Nürnberg, Shahida Moosa, J. Altmüller, 2021, American journal of medical genetics. Part A.

Severe Cenani–Lenz syndrome caused by loss of LRP4 function

R. Hennekam, A. Kariminejad, Yun Li, 2013, American journal of medical genetics. Part A.

A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous KATNB1 mutation

D. Wieczorek, P. Nürnberg, J. Altmüller, 2016, American Journal of Medical Genetics. Part A.