Tüysüz B - Search Results

1

Two novel mutations in XYLT2 cause spondyloocular syndrome.

Taylan F, Yavaş Abalı Z, Jäntti N, Güneş N, Darendeliler F, Baş F, Poyrazoğlu Ş, Tamçelik N, Tüysüz B, Mäkitie O. Taylan F, et al. Among authors: tuysuz b. Am J Med Genet A. 2017 Dec;173(12):3195-3200. doi: 10.1002/ajmg.a.38470. Epub 2017 Sep 8. Am J Med Genet A. 2017. PMID: 28884924

2

Patient with the mesomelic dysplasia, Nievergelt syndrome, and cerebellovermian agenesis and cataracts.

Tüysüz B, Zeybek C, Zorer G, Sipahi O, Ungür S. Tüysüz B, et al. Am J Med Genet. 2002 May 1;109(3):206-10. doi: 10.1002/ajmg.10283. Am J Med Genet. 2002. PMID: 11977180

3

Short trunk stature, brachydactyly, and platyspondyly in three sibs: a new form of brachyolmia or a new skeletal dysplasia?

Tüysüz B, Ungür S. Tüysüz B, et al. Am J Med Genet A. 2003 Jun 15;119A(3):375-80. doi: 10.1002/ajmg.a.20125. Am J Med Genet A. 2003. PMID: 12784309

4

Spondyloenchondrodysplasia: clinical variability in three cases.

Tüysüz B, Arapoglu M, Ungür S. Tüysüz B, et al. Am J Med Genet A. 2004 Jul 15;128A(2):185-9. doi: 10.1002/ajmg.a.30078. Am J Med Genet A. 2004. PMID: 15214014

5

Omani-type spondyloepiphyseal dysplasia with cardiac involvement caused by a missense mutation in CHST3.

Tuysuz B, Mizumoto S, Sugahara K, Celebi A, Mundlos S, Turkmen S. Tuysuz B, et al. Clin Genet. 2009 Apr;75(4):375-83. doi: 10.1111/j.1399-0004.2009.01167.x. Clin Genet. 2009. PMID: 19320654

6

Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients.

Tüysüz B, Bariş S, Aksoy F, Madazli R, Ungür S, Sever L. Tüysüz B, et al. Am J Med Genet A. 2009 Aug;149A(8):1727-33. doi: 10.1002/ajmg.a.32962. Am J Med Genet A. 2009. PMID: 19610081

7

Clinical variability of Waardenburg-Shah syndrome in patients with proximal 13q deletion syndrome including the endothelin-B receptor locus.

Tüysüz B, Collin A, Arapoğlu M, Suyugül N. Tüysüz B, et al. Am J Med Genet A. 2009 Oct;149A(10):2290-5. doi: 10.1002/ajmg.a.33031. Am J Med Genet A. 2009. PMID: 19764031

8

The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2.

Yildirim Y, Tolun A, Tüysüz B. Yildirim Y, et al. Among authors: tuysuz b. Am J Med Genet A. 2011 Jan;155A(1):134-40. doi: 10.1002/ajmg.a.33747. Epub 2010 Dec 9. Am J Med Genet A. 2011. PMID: 21204221

9

Osteoporosis-pseudoglioma syndrome: three novel mutations in the LRP5 gene and response to bisphosphonate treatment.

Tüysüz B, Bursalı A, Alp Z, Suyugül N, Laine CM, Mäkitie O. Tüysüz B, et al. Horm Res Paediatr. 2012;77(2):115-20. doi: 10.1159/000336193. Epub 2012 Mar 23. Horm Res Paediatr. 2012. PMID: 22456437

10

Growth charts of Turkish children with Down syndrome.

Tüysüz B, Göknar NT, Oztürk B. Tüysüz B, et al. Am J Med Genet A. 2012 Nov;158A(11):2656-64. doi: 10.1002/ajmg.a.35710. Epub 2012 Oct 5. Am J Med Genet A. 2012. PMID: 23042557

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