K. Becker

发表

Constitutional trisomy 8 and Behçet syndrome

A. Green, M. Keogan, R. Newbury-Ecob, 2009, American journal of medical genetics. Part A.

Early fetal death associated with compound heterozygosity for Noonan syndrome‐causative PTPN11 mutations

M. Patton, A. Shaw, M. Tartaglia, 2007, American journal of medical genetics. Part A.

CHRNG genotype–phenotype correlations in the multiple pterygium syndromes

R. Touraine, S. Holder, J. Fryns, 2011, Journal of Medical Genetics.

Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy

W. Reardon, R. Newbury-Ecob, A. Rauch, 2003, Journal of medical genetics.

SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism

W. Reardon, J. Clayton-Smith, R. Winter, 2004, Journal of Medical Genetics.

Human Couples An Association Between the Kinship and Fertility

R. Hennekam, Y. Crow, A. Ekici, 2008 .

An unknown spondylo-meta-epiphyseal dysplasia in sibs with extreme short stature.

S. Mundlos, B. Zabel, K. Becker, 1996, American journal of medical genetics.

Okihiro syndrome and acro-renal-ocular syndrome: clinical overlap, expansion of the phenotype, and absence of PAX2 mutations in two new families

P. Beales, G. Matthijs, S. Mohammed, 2002, Journal of medical genetics.

Dysmorphic features and learning disability in an adult male with pure partial trisomy 17q24-q25 due to a terminal duplication.

A. Green, R. Stallings, B. Kelly, 2002, American journal of medical genetics.

Brief Report: A Case of Autism Associated with del(2)(q32.1q32.2) or (q32.2q32.3)

M. Gill, L. Gallagher, A. Green, 2003, Journal of autism and developmental disorders.

Loss of a single amino acid from dystrophin resulting in Duchenne muscular dystrophy with retention of dystrophin protein

S. Abbs, K. Becker, R. Roberts, 2003, Human mutation.

Microcephaly-cardiomyopathy syndrome: expansion of the phenotype

K. Becker, R. Yates, 2003, Journal of medical genetics.

Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism

K. Devriendt, R. Hennekam, H. Brunner, 2008, Science.

Costello syndrome with decreased glucose tolerance.

É. Török, K. Becker, S. Szalai, 1999, European journal of dermatology : EJD.

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 novel presentation of a rare chromosome 2p25.2 deletion.

K. Becker, S. Horrocks, Charlotte Jaggard, 2010, Clinical dysmorphology.

Keratin 9 Mutations in the Coil 1A Region in Epidermolytic Palmoplantar Keratoderma

É. Török, K. Becker, S. Szalai, 1999, Pediatric dermatology.

Phenotypic spectrum of Microcephalic osteodysplastic primordial dwarfism type Majewski II caused by mutations in the Pericentrin (PCNT) Gene

K. Devriendt, R. Hennekam, H. Brunner, 2008 .