R. Koenig

发表

Genotype-phenotype correlations in Noonan syndrome.

W. Kress, M. Zenker, A. Reis, 2004, The Journal of pediatrics.

A de novo deletion of chromosome 5q causing familial adenomatous polyposis, dysmorphic features, and mild mental retardation

S. Zeuzem, H. Engels, R. Koenig, 2001, American Journal of Gastroenterology.

A de novo deletion of chromosome 5q causing familial adenomatous polyposis, dysmorphic features, and mild mental retardation

S. Zeuzem, H. Engels, R. Koenig, 2001 .

Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism.

M. Holtgrewe, C. Gonzaga-Jauregui, J. Overton, 2020, Bone.

Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.

Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, Na Zhu, 2014, American journal of human genetics.

UvA-DARE ( Digital Academic Repository ) Loss of the BMP Antagonist , SMOC-1 , Causes Ophthalmo-Acromelic ( Waardenburg Anophthalmia ) Syndrome in Humans and Mice

Wieczorek, Dagmar, Rosanna, 2011 .

SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy

D. Horn, S. Mundlos, B. Tüysüz, 2019, Journal of Human Genetics.

Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis

G. Mortier, W. Van Hul, R. Koenig, 2011, Clinical genetics.

Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

I. Jackson, R. Hennekam, H. Brunner, 2011, PLoS genetics.

De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.

D. Horn, S. Mundlos, T. Mielke, 2017, American journal of human genetics.

Anopheles gambiae Trehalase Inhibitors for Malaria Vector Control: A Molecular Docking and Molecular Dynamics Study

S. Fatumo, E. Adebiyi, S. Fatumo, 2022, Insects.

Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations

Stefan Mundlos, Denise Horn, Dirk Schnabel, 2006, Journal of Medical Genetics.

Bardet-Biedl syndrome and Usher syndrome.

R. Koenig, 2003, Developments in ophthalmology.

Spectrum of the acrocallosal syndrome.

K. Grzeschik, R. Koenig, U. Woelki, 2002, American journal of medical genetics.

Deletions in the 3′ Part of the NFIX Gene Including a Recurrent Alu‐Mediated Deletion of Exon 6 and 7 Account for Previously Unexplained Cases of Marshall–Smith Syndrome

R. Hennekam, A. Shaw, E. Seemanová, 2014, Human mutation.

Wiedemann–Steiner syndrome: Three further cases

A. Kuechler, P. Meinecke, R. Koenig, 2010, American journal of medical genetics. Part A.

Wolf–Hirschhorn syndrome

R. Koenig, R. Koenig, 2016 .

Computational identification of Plasmodium falciparum RNA pseudouridylate synthase as a viable drug target, its physicochemical properties, 3D structure prediction and prediction of potential inhibitors.

Yagoub Ali Ibrahim Adam, Shalom Nwodo Chinedu, E. Adebiyi, 2021, Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases.

R. Koenig, S. Fuchs, Leticia Brendel, 2003, Clinical dysmorphology.

Severe forms of Baraitser–Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations

A. Rump, A. Verloes, N. Donato, 2013, European Journal of Human Genetics.

Osteopathia striata with cranial sclerosis owing to WTX gene defect

E. Haan, W. Hul, M. Barbosa, 2010, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

A second case of Devriendt syndrome

P. Meinecke, R. Koenig, S. Fuchs, 2005, Clinical dysmorphology.

Teebi hypertelorism syndrome

R. Koenig, 2003, Clinical dysmorphology.

Intrafamilial variability in six family members with ERF‐related craniosynostosis syndrome type 4

R. Koenig, M. Kieslich, Marina K Moddemann, 2022, American journal of medical genetics. Part A.

Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

I. Jackson, R. Hennekam, H. Brunner, 2018, PLoS Genetics.

Deletions in the 3′ Part of the NFIX Gene Including a Recurrent Alu‐Mediated Deletion of Exon 6 and 7 Account for Previously Unexplained Cases of Marshall–Smith Syndrome

R. Hennekam, A. Shaw, E. Seemanová, 2014, Human mutation.