R. König

发表

Familial syndromic esophageal atresia maps to 2p23-p24.

R. Hennekam, J. Tolmie, H. Brunner, 2000, American journal of human genetics.

UvA-DARE ( Digital Academic Repository ) Familial syndromic esophegeal atresia maps to p 23p 24

R. Hennekam, J. Tolmie, H. Brunner, 2022 .

Holoprosencephaly, bilateral cleft lip and palate and ectrodactyly: another case and follow up

H. Scheffer, K. Bitter, R. König, 2003, Clinical dysmorphology.

Simpson-Golabi-Behmel syndrome with severe cardiac arrhythmias.

U. Langenbeck, R. König, S. Fuchs, 1991, American journal of medical genetics.

Twenty‐six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS)

W. Reardon, F. Stewart, S. Tinschert, 2005, Human mutation.

The face of Noonan syndrome: Does phenotype predict genotype

D. Horn, J. Allanson, D. Wieczorek, 2010, American journal of medical genetics. Part A.

Mutation and phenotypic spectrum in patients with cardio‐facio‐cutaneous and Costello syndrome

D. Horn, S. Uhrig, B. Tüysüz, 2007, Clinical genetics.

Genetic analysis of sudden unexplained death: a multidisciplinary approach.

T. Neumann, D. Erkapic, S. Kauferstein, 2013, Forensic science international.

Osteopathia striata with cranial sclerosis: variable expressivity in a four generation pedigree.

B. Zabel, R. König, A. Dörries, 1996, American journal of medical genetics.

An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14

T. Meitinger, S. Schuffenhauer, P. Lichtner, 2000, Journal of Medical Genetics.

Townes-Brocks syndrome

R. König, S. Fuchs, U. Schick, 1990, European Journal of Pediatrics.

Mosaicism for FMR1 and FMR2 deletion: a new case

R. König, S. Fengler, S. Fuchs, 2002, Journal of medical genetics.

Sibs affected with both Ehlers-Danlos syndrome type IV and cystic fibrosis.

S. Zielen, A. Jarisch, C. Giunta, 1998, American journal of medical genetics.

SALL1 mutation analysis in Townes‐Brocks syndrome: twelve novel mutations and expansion of the phenotype

A. Green, J. Mcgaughran, M. Whiteford, 2005, Human mutation.

Alport syndrome with diffuse leiomyomatosis

M. Anker, P. Ahrens, R. König, 2003, American journal of medical genetics. Part A.

Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management

C. Fagour, P. Njølstad, J. Bernstein, 2016, Clinical genetics.

Pulmonary alveolar microlithiasis in children

R. Kitz, S. Zielen, P. Ahrens, 2005, Pediatric Radiology.

[Schimmelpenning-Feuerstein-Mims syndrome and its neurologic manifestations. 6 personal cases and review of the literature].

G. Jacobi, R. König, C. Fritzsch, 1995, Klinische Padiatrie.

Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity.

G. Mortier, A. Mégarbané, R. Scott, 2011, American journal of human genetics.

Point mutations in human GLI3 cause Greig syndrome.

M. Kalff-Suske, K. Grzeschik, A. Wild, 1997, Human molecular genetics.

Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification.

D. Horn, B. Lorenz, D. Wieczorek, 2005, European journal of medical genetics.

Detection of TSPY protein in a unilateral microscopic gonadoblastoma of a Turner mosaic patient with a Y-derived marker chromosome.

R. Hildenbrand, E. Brude, W. Schröder, 1999, The Journal of pathology.

Mediastinales Terato-Carzinom und Hypophysenstielgerminom bei einem Patienten mit Klinefelter Syndrom

R. König, W. Schönberger, W. Grimm, 1990 .

Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1.

J. Weissenbach, R. Heilig, D. Samson, 1997, Human molecular genetics.

Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations.

D. J. Driscoll, S. Saitoh, P. Rogan, 1996, Proceedings of the National Academy of Sciences of the United States of America.

Prader-Willi syndrome with a karyotype 47,XY,+min(15)(pter->q11.1:) and maternal UPD 15--case report plus review of similar cases.

K. Mrasek, T. Liehr, G. Gillessen‐kaesbach, 2005, European journal of medical genetics.

A restricted spectrum of NRAS mutations causes Noonan syndrome

D. Horn, S. Mundlos, R. Kucherlapati, 2010, Nature Genetics.

Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome.

Reinhard Ullmann, Stefan Mundlos, Lynn Greenhalgh, 2007, American journal of human genetics.

Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.

R Rizzo, J Kunze, M. Kalff-Suske, 1999, Human molecular genetics.

SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling.

Stefan Johansson, Ingfrid Haldorsen, Pål Rasmus Njølstad, 2013, American journal of human genetics.

Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation

Jürgen Kunze, Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, 2004, European Journal of Human Genetics.

Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement

D. Horn, S. Mundlos, M. Spielmann, 2016, American journal of medical genetics. Part A.

Comments on “Osteopathia striata cranial sclerosis: Non‐random X‐inactivation suggestive of X‐linked dominant inheritance”

C. Kraus, H. Rott, R. König, 2003, American journal of medical genetics. Part A.

Shprintzen–Goldberg syndrome: Fourteen new patients and a clinical analysis

P. Robinson, S. Tinschert, L. Neumann, 2005, American journal of medical genetics. Part A.

Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations

W. Reardon, H. Brunner, A. Mégarbané, 2013, Orphanet Journal of Rare Diseases.

OFD II, OFD VI, and Joubert syndrome manifestations in 2 sibs.

K. Haug, Saima Khan, R. König, 2000, American journal of medical genetics.

The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients

Golder N Wilson, N. Philip, J. Fryns, 1994, European Journal of Pediatrics.

Branchio-Oto-Renal (BOR) syndrome: variable expressivity in a five-generation pedigree

R. König, S. Fuchs, C. Dukiet, 1994, European Journal of Pediatrics.

Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction.

D. Wieczorek, K. Sund, C. Lourenço, 2015, American journal of human genetics.

Functional testing strategy for coding genetic variants of unclear significance in MLH1 in Lynch syndrome diagnosis.

J. Trojan, I. Hinrichsen, G. Plotz, 2015, Carcinogenesis.

[Treatment of marked gynecomastia in puberty with tamoxifen].

R. König, W. Schönberger, W. Grimm, 1987, Klinische Padiatrie.

[A solitary central maxillary incisor and holoprosencephaly in siblings].

R. König, S. Zschiesche, J. Süss, 1990, Deutsche zahnarztliche Zeitschrift.

The face of Noonan syndrome: Does phenotype predict genotype

D. Horn, J. Allanson, D. Wieczorek, 2010, American journal of medical genetics. Part A.