Hempel M - Search Results

1

The Epidemiology behind Pectus Excavatum: Clinical Study and Review of the Literature.

Kloth K, Klohs S, Bhullar J, Boettcher M, Hempel M, Trah J, Reinshagen K. Kloth K, et al. Among authors: hempel m. Eur J Pediatr Surg. 2022 Aug;32(4):316-320. doi: 10.1055/s-0041-1729898. Epub 2021 Jun 14. Eur J Pediatr Surg. 2022. PMID: 34126636 Review.

2

First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features.

Kloth K, Denecke J, Hempel M, Johannsen J, Strom TM, Kubisch C, Lessel D. Kloth K, et al. Among authors: hempel m. Eur J Med Genet. 2017 Sep;60(9):494-498. doi: 10.1016/j.ejmg.2017.07.001. Epub 2017 Jul 4. Eur J Med Genet. 2017. PMID: 28687526

3

Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder.

Harms FL, Kloth K, Bley A, Denecke J, Santer R, Lessel D, Hempel M, Kutsche K. Harms FL, et al. Among authors: hempel m. Am J Hum Genet. 2018 Oct 4;103(4):579-591. doi: 10.1016/j.ajhg.2018.09.005. Am J Hum Genet. 2018. PMID: 30290153 Free PMC article.

4

Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients.

Renner S, Schüler H, Alawi M, Kolbe V, Rybczynski M, Woitschach R, Sheikhzadeh S, Stark VC, Olfe J, Roser E, Seggewies FS, Mahlmann A, Hempel M, Hartmann MJ, Hillebrand M, Wieczorek D, Volk AE, Kloth K, Koch-Hogrebe M, Abou Jamra R, Mitter D, Altmüller J, Wey-Fabrizius A, Petersen C, Rau I, Borck G, Kubisch C, Mir TS, von Kodolitsch Y, Kutsche K, Rosenberger G. Renner S, et al. Among authors: hempel m. Genet Med. 2019 Aug;21(8):1832-1841. doi: 10.1038/s41436-019-0435-z. Epub 2019 Jan 24. Genet Med. 2019. PMID: 30675029 Free article.

5

16p13.11 microdeletion uncovers loss-of-function of a MYH11 missense variant in a patient with megacystis-microcolon-intestinal-hypoperistalsis syndrome.

Kloth K, Renner S, Burmester G, Steinemann D, Pabst B, Lorenz B, Simon R, Kolbe V, Hempel M, Rosenberger G. Kloth K, et al. Among authors: hempel m. Clin Genet. 2019 Jul;96(1):85-90. doi: 10.1111/cge.13557. Epub 2019 May 16. Clin Genet. 2019. PMID: 31044419

6

Exome Sequencing in Children.

Mahler EA, Johannsen J, Tsiakas K, Kloth K, Lüttgen S, Mühlhausen C, Alhaddad B, Haack TB, Strom TM, Kortüm F, Meitinger T, Muntau AC, Santer R, Kubisch C, Lessel D, Denecke J, Hempel M. Mahler EA, et al. Among authors: hempel m. Dtsch Arztebl Int. 2019 Mar 22;116(12):197-204. doi: 10.3238/arztebl.2019.0197. Dtsch Arztebl Int. 2019. PMID: 31056085 Free PMC article.

7

Excessive Seizure Clusters in an Otherwise Well-Controlled Epilepsy as a Possible Hallmark of Untreated Vitamin B6-Responsive Epilepsy due to a Homozygous PLPBP Missense Variant.

Johannsen J, Bierhals T, Deindl P, Hecher L, Hermann K, Hempel M, Kloth K, Denecke J. Johannsen J, et al. Among authors: hempel m. J Pediatr Genet. 2019 Dec;8(4):222-225. doi: 10.1055/s-0039-1685501. Epub 2019 Apr 20. J Pediatr Genet. 2019. PMID: 31687261 Free PMC article.

8

Hirschsprung Disease - Clinical Relevance of RET Mutations.

Wenskus JK, Vincent D, Hempel M, Reinshagen K. Wenskus JK, et al. Among authors: hempel m. Z Geburtshilfe Neonatol. 2021 Feb;225(1):80-82. doi: 10.1055/a-1230-4045. Epub 2020 Sep 17. Z Geburtshilfe Neonatol. 2021. PMID: 32942321 English.

9

Heterogeneous phenotypes in families with duplications of the paternal allele within the imprinting center 1 (H19/IGF2:TSS-DMR) in 11p15.5.

Eggermann T, Kraft F, Kloth K, Klopocki E, Hüning I, Hempel M, Kunstmann E. Eggermann T, et al. Among authors: hempel m. Clin Genet. 2020 Oct;98(4):418-419. doi: 10.1111/cge.13820. Epub 2020 Aug 9. Clin Genet. 2020. PMID: 33294970

10

Fatal COVID-19 in a Child with Persistence of SARS-CoV-2 Despite Extensive Multidisciplinary Treatment: A Case Report.

Apostolidou S, Harbauer T, Lasch P, Biermann D, Hempel M, Lütgehetmann M, Pfefferle S, Herrmann J, Rüffer A, Reinshagen K, Kozlik-Feldmann R, Gieras A, Kniep I, Oh J, Singer D, Ebenebe CU, Kobbe R. Apostolidou S, et al. Among authors: hempel m. Children (Basel). 2021 Jun 30;8(7):564. doi: 10.3390/children8070564. Children (Basel). 2021. PMID: 34208887 Free PMC article.

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