Schulz S - Search Results

1

Increased frequency of cystic fibrosis transmembrane conductance regulator gene mutations in infertile males.

Schulz S, Jakubiczka S, Kropf S, Nickel I, Muschke P, Kleinstein J. Schulz S, et al. Fertil Steril. 2006 Jan;85(1):135-8. doi: 10.1016/j.fertnstert.2005.07.1282. Fertil Steril. 2006. PMID: 16412743 Free article.

2

Gene symbol: MPZ. Disease: Charcot-Marie-Tooth disease. Accession #Hm0549.

Jakubiczka S, Schulz S, Wieacker P. Jakubiczka S, et al. Among authors: schulz s. Hum Genet. 2006 Feb;118(6):781. Hum Genet. 2006. PMID: 17297705 No abstract available.

3

Congenital cataract, ataxia, external ophthalmoplegia and dysphagia in two siblings. A Marinesco-Sjögren-like syndrome.

Schulz S, Vielhaber S, Muschke P, Mohnike K, Gooding R, Wieacker P. Schulz S, et al. Neuropediatrics. 2007 Apr;38(2):88-90. doi: 10.1055/s-2007-984448. Neuropediatrics. 2007. PMID: 17712737

4

Greig cephalopolysyndactyly (GCPS) contiguous gene syndrome in a boy with a 14 Mb deletion in region 7p13-14 caused by a paternal balanced insertion (5; 7).

Schulz S, Volleth M, Muschke P, Wieland I, Wieacker P. Schulz S, et al. Appl Clin Genet. 2008 Nov 18;1:19-22. doi: 10.2147/tacg.s4401. Print 2008. Appl Clin Genet. 2008. PMID: 23776344 Free PMC article.

5

Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy.

Johannesen KM, Mitter D, Janowski R, Roth C, Toulouse J, Poulat AL, Ville DM, Chatron N, Brilstra E, Geleijns K, Born AP, McLean S, Nugent K, Baynam G, Poulton C, Dreyer L, Gration D, Schulz S, Dieckmann A, Helbig KL, Merkenschlager A, Jamra R, Finck A, Gardella E, Hjalgrim H, Mirzaa G, Brancati F, Bierhals T, Denecke J, Hempel M, Lemke JR, Rubboli G, Muschke P, Guerrini R, Vetro A, Niessing D, Lesca G, Møller RS. Johannesen KM, et al. Among authors: schulz s. Neurol Genet. 2019 Dec 10;5(6):e373. doi: 10.1212/NXG.0000000000000373. eCollection 2019 Dec. Neurol Genet. 2019. PMID: 32042906 Free PMC article.

6

Prenatal diagnosis of Roberts syndrome and detection of an ESCO2 frameshift mutation in a Pakistani family.

Schulz S, Gerloff C, Ledig S, Langer D, Volleth M, Shirneshan K, Wieacker P. Schulz S, et al. Prenat Diagn. 2008 Jan;28(1):42-5. doi: 10.1002/pd.1904. Prenat Diagn. 2008. PMID: 18186147

7

Pseudotrisomy 13: clinical findings and genetic implications.

Schulz S, Gerloff C, Kalinski T, Mawrin C, Kanakis D, Haas D, Hahn H, Wieacker P. Schulz S, et al. Fetal Diagn Ther. 2005 Nov-Dec;20(6):501-3. doi: 10.1159/000088038. Fetal Diagn Ther. 2005. PMID: 16260883

8

Immunolocalization of full-length NK1 tachykinin receptors in human tumors.

Schulz S, Stumm R, Röcken C, Mawrin C, Schulz S. Schulz S, et al. J Histochem Cytochem. 2006 Sep;54(9):1015-20. doi: 10.1369/jhc.6A6966.2006. Epub 2006 May 1. J Histochem Cytochem. 2006. PMID: 16651388

9

Immunohistochemical detection of bombesin receptor subtypes GRP-R and BRS-3 in human tumors using novel antipeptide antibodies.

Schulz S, Röcken C, Schulz S. Schulz S, et al. Virchows Arch. 2006 Oct;449(4):421-7. doi: 10.1007/s00428-006-0265-7. Epub 2006 Sep 12. Virchows Arch. 2006. PMID: 16967266

10

Immunocytochemical identification of low-affinity NTS2 neurotensin receptors in parietal cells of human gastric mucosa.

Schulz S, Röcken C, Ebert MP, Schulz S. Schulz S, et al. J Endocrinol. 2006 Oct;191(1):121-8. doi: 10.1677/joe.1.06903. J Endocrinol. 2006. PMID: 17065395

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