Hahn G - Search Results

1

Macrocephaly, obesity, mental (intellectual) disability, and ocular abnormalities: alternative definition and further delineation of MOMO syndrome.

Di Donato N, Riess A, Hackmann K, Rump A, Huebner A, von der Hagen M, Hahn G, Schrock E, Tinschert S. Di Donato N, et al. Among authors: hahn g. Am J Med Genet A. 2012 Nov;158A(11):2857-62. doi: 10.1002/ajmg.a.35481. Epub 2012 Jul 20. Am J Med Genet A. 2012. PMID: 22821547

2

Interstitial deletion 1p36.32 in two brothers with a distinct phenotype--overgrowth, macrocephaly and nearly normal intellectual function.

Di Donato N, Klink B, Hahn G, Schrock E, Hackmann K. Di Donato N, et al. Among authors: hahn g. Eur J Med Genet. 2014 Sep;57(9):494-7. doi: 10.1016/j.ejmg.2014.05.004. Epub 2014 May 23. Eur J Med Genet. 2014. PMID: 24862882

3

Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations.

Di Donato N, Rump A, Koenig R, Der Kaloustian VM, Halal F, Sonntag K, Krause C, Hackmann K, Hahn G, Schrock E, Verloes A. Di Donato N, et al. Among authors: hahn g. Eur J Hum Genet. 2014 Feb;22(2):179-83. doi: 10.1038/ejhg.2013.130. Epub 2013 Jun 12. Eur J Hum Genet. 2014. PMID: 23756437 Free PMC article.

4

A new autosomal dominant syndrome of distinctive face showing ptosis and prominent eyes associated with cleft palate, ear anomalies, and learning disability.

Tyshchenko N, Neuhann TM, Gerlach E, Hahn G, Heisch K, Rump A, Schrock E, Tinschert S, Hackmann K. Tyshchenko N, et al. Among authors: hahn g. Am J Med Genet A. 2011 Sep;155A(9):2060-5. doi: 10.1002/ajmg.a.34159. Epub 2011 Aug 10. Am J Med Genet A. 2011. PMID: 21834043

5

Selenoprotein N muscular dystrophy: differential diagnosis for early-onset limited mobility of the spine.

Sponholz S, von der Hagen M, Hahn G, Seifert J, Richard P, Stoltenburg-Didinger G, Ferreiro A, Kaindl AM. Sponholz S, et al. Among authors: hahn g. J Child Neurol. 2006 Apr;21(4):316-20. doi: 10.1177/08830738060210041401. J Child Neurol. 2006. PMID: 16900928

6

Variable clinical phenotype in two siblings with Aicardi-Goutières syndrome type 6 and a novel mutation in the ADAR gene.

Schmelzer L, Smitka M, Wolf C, Lucas N, Tüngler V, Hahn G, Tzschach A, Di Donato N, Lee-Kirsch MA, von der Hagen M. Schmelzer L, et al. Among authors: hahn g. Eur J Paediatr Neurol. 2018 Jan;22(1):186-189. doi: 10.1016/j.ejpn.2017.11.003. Epub 2017 Nov 22. Eur J Paediatr Neurol. 2018. PMID: 29221912

7

Novel Mutation in the DKC1 Gene: Neonatal Hoyeraal-Hreidarsson Syndrome As a Rare Differential Diagnosis in Pontocerebellar Hypoplasia, Primary Microcephaly, and Progressive Bone Marrow Failure.

Dehmel M, Brenner S, Suttorp M, Hahn G, Schützle H, Dinger J, Di Donato N, Mackenroth L, von der Hagen M. Dehmel M, et al. Among authors: hahn g. Neuropediatrics. 2016 Jun;47(3):182-6. doi: 10.1055/s-0036-1578799. Epub 2016 Mar 7. Neuropediatrics. 2016. PMID: 26951492

8

Autosomal dominant neurohypophyseal diabetes insipidus in two families. Molecular analysis of the vasopressin-neurophysin II gene and functional studies of three missense mutations.

Hedrich CM, Zachurzok-Buczynska A, Gawlik A, Russ S, Hahn G, Koehler K, Malecka-Tendera E, Huebner A. Hedrich CM, et al. Among authors: hahn g. Horm Res. 2009;71(2):111-9. doi: 10.1159/000183900. Epub 2009 Jan 8. Horm Res. 2009. PMID: 19129716

9

Variable clinical course in acute necrotizing encephalopathy and identification of a novel RANBP2 mutation.

Sell K, Storch K, Hahn G, Lee-Kirsch MA, Ramantani G, Jackson S, Neilson D, von der Hagen M, Hehr U, Smitka M. Sell K, et al. Among authors: hahn g. Brain Dev. 2016 Sep;38(8):777-80. doi: 10.1016/j.braindev.2016.02.007. Epub 2016 Feb 26. Brain Dev. 2016. PMID: 26923722

10

The first case of 3-methylcrotonyl-CoA carboxylase (MCC) deficiency responsive to biotin.

Friebel D, von der Hagen M, Baumgartner ER, Fowler B, Hahn G, Feyh P, Heubner G, Baumgartner MR, Hoffmann GF. Friebel D, et al. Among authors: hahn g. Neuropediatrics. 2006 Apr;37(2):72-8. doi: 10.1055/s-2006-924024. Neuropediatrics. 2006. PMID: 16773504

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

720 results

Search Page

Filters