P Debeer

Author PubWeight™ 10.42‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 PA26 is a candidate gene for heterotaxia in humans: identification of a novel PA26-related gene family in human and mouse. Hum Genet 2003 1.23
2 Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13. J Med Genet 2002 1.03
3 Haploinsufficiency of the HOXA gene cluster, in a patient with hand-foot-genital syndrome, velopharyngeal insufficiency, and persistent patent Ductus botalli. Am J Hum Genet 1999 0.97
4 Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements. J Med Genet 2009 0.89
5 Treatment of rotator cuff arthropathy with a reversed Delta shoulder prosthesis. Acta Orthop Belg 2001 0.84
6 Structure, sequence, and chromosome 19 localization of human USF2 and its rearrangement in a patient with multicystic renal dysplasia. Genomics 1996 0.83
7 A novel NOG mutation Pro37Arg in a family with tarsal and carpal synostoses. Am J Med Genet A 2004 0.80
8 Surgical treatment of complete acromioclavicular separations. A review of 40 patients. Unfallchirurg 1988 0.80
9 Heterotopic ossification of the supraspinatus tendon after rotator cuff repair: case report. Clin Rheumatol 2005 0.78
10 Co-segregation of an apparently balanced reciprocal t(12;22)(p11.2;q13.3) with a complex type of 3/3'/4 synpolydactyly associated with metacarpal, metatarsal and tarsal synostoses in three family members. Clin Dysmorphol 1998 0.78
11 Responsiveness of the Dutch version of the DASH as an outcome measure for carpal tunnel syndrome. J Hand Surg Eur Vol 2006 0.77
12 Recurrent involvement of chromosomal region 6q21 in heterotaxy. Am J Med Genet 2001 0.75
13 Acro-osteolysis and symphalangism mutations. J Bone Miner Res 2005 0.75