Kress W - Search Results

1

Report of two siblings with spondylodysplastic Ehlers-Danlos syndrome and B4GALT7 deficiency.

Lorenz D, Kress W, Zaum AK, Speer CP, Hebestreit H. Lorenz D, et al. Among authors: kress w. BMC Pediatr. 2021 Jun 30;21(1):293. doi: 10.1186/s12887-021-02767-0. BMC Pediatr. 2021. PMID: 34193099 Free PMC article.

2

Detection of pericentric inversion with breakpoint in DMD by whole genome sequencing.

Zaum AK, Nanda I, Kress W, Rost S. Zaum AK, et al. Among authors: kress w. Mol Genet Genomic Med. 2022 Oct;10(10):e2028. doi: 10.1002/mgg3.2028. Epub 2022 Aug 1. Mol Genet Genomic Med. 2022. PMID: 35912688 Free PMC article.

3

A new case expanding the mutation and phenotype spectrum of TMEM5-related alpha-dystroglycanopathy.

Zaum AK, Kolokotronis K, Kress W, Goebel HH, Rost S, Seeger J. Zaum AK, et al. Among authors: kress w. Neuromuscul Disord. 2018 Aug;28(8):671-674. doi: 10.1016/j.nmd.2018.06.006. Epub 2018 Jun 20. Neuromuscul Disord. 2018. PMID: 30017359

4

Deep intronic variants introduce DMD pseudoexon in patient with muscular dystrophy.

Zaum AK, Stüve B, Gehrig A, Kölbel H, Schara U, Kress W, Rost S. Zaum AK, et al. Among authors: kress w. Neuromuscul Disord. 2017 Jul;27(7):631-634. doi: 10.1016/j.nmd.2017.04.003. Epub 2017 Apr 7. Neuromuscul Disord. 2017. PMID: 28495050

5

Genotype-phenotype correlations in Noonan syndrome.

Zenker M, Buheitel G, Rauch R, Koenig R, Bosse K, Kress W, Tietze HU, Doerr HG, Hofbeck M, Singer H, Reis A, Rauch A. Zenker M, et al. Among authors: kress w. J Pediatr. 2004 Mar;144(3):368-74. doi: 10.1016/j.jpeds.2003.11.032. J Pediatr. 2004. PMID: 15001945

6

Brugada-like cardiac disease in myotonic dystrophy type 2: report of two unrelated patients.

Rudnik-Schöneborn S, Schaupp M, Lindner A, Kress W, Schulze-Bahr E, Zumhagen S, Elbracht M, Zerres K. Rudnik-Schöneborn S, et al. Among authors: kress w. Eur J Neurol. 2011 Jan;18(1):191-4. doi: 10.1111/j.1468-1331.2010.03077.x. Eur J Neurol. 2011. PMID: 20491895

7

Aarskog-Scott syndrome: a novel mutation in the FGD1 gene associated with severe craniofacial dysplasia.

Völter C, Martínez R, Hagen R, Kress W. Völter C, et al. Among authors: kress w. Eur J Pediatr. 2014 Oct;173(10):1373-6. doi: 10.1007/s00431-014-2317-3. Epub 2014 Apr 27. Eur J Pediatr. 2014. PMID: 24770546

8

Identification of variants in MBNL1 in patients with a myotonic dystrophy-like phenotype.

Larsen M, Kress W, Schoser B, Hehr U, Müller CR, Rost S. Larsen M, et al. Among authors: kress w. Eur J Hum Genet. 2016 Oct;24(10):1467-72. doi: 10.1038/ejhg.2016.41. Epub 2016 May 25. Eur J Hum Genet. 2016. PMID: 27222292 Free PMC article.

9

Molecular genetic haplotype segregation studies in three families with X-linked lymphoproliferative disease.

Schuster V, Seidenspinner S, Grimm T, Kress W, Zielen S, Bock M, Kreth HW. Schuster V, et al. Among authors: kress w. Eur J Pediatr. 1994 Jun;153(6):432-7. doi: 10.1007/BF01983408. Eur J Pediatr. 1994. PMID: 7916289

10

Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects.

Petersen JA, Kuntzer T, Fischer D, von der Hagen M, Huebner A, Kana V, Lobrinus JA, Kress W, Rushing EJ, Sinnreich M, Jung HH. Petersen JA, et al. Among authors: kress w. BMC Neurol. 2015 Oct 6;15:182. doi: 10.1186/s12883-015-0449-3. BMC Neurol. 2015. PMID: 26444858 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

313 results

Search Page

Filters