Eichhorn B - Search Results

1

Novel MECP2 Mutation c.1162_1172del; p.Pro388* in Two Patients with Symptoms of Atypical Rett Syndrome.

Bernstein U, Demuth S, Puk O, Eichhorn B, Schulz S. Bernstein U, et al. Among authors: eichhorn b. Mol Syndromol. 2019 Jul;10(4):223-228. doi: 10.1159/000501183. Epub 2019 Jul 2. Mol Syndromol. 2019. PMID: 31602196 Free PMC article.

2

An intronic splice site alteration in combination with a large deletion affecting VPS13B (COH1) causes Cohen syndrome.

Boschann F, Fischer-Zirnsak B, Wienker TF, Holtgrewe M, Seelow D, Eichhorn B, Döhnert S, Fahsold R, Horn D, Graul-Neumann LM. Boschann F, et al. Among authors: eichhorn b. Eur J Med Genet. 2020 Sep;63(9):103973. doi: 10.1016/j.ejmg.2020.103973. Epub 2020 Jun 4. Eur J Med Genet. 2020. PMID: 32505691

3

Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes.

Kratz CP, Franke L, Peters H, Kohlschmidt N, Kazmierczak B, Finckh U, Bier A, Eichhorn B, Blank C, Kraus C, Kohlhase J, Pauli S, Wildhardt G, Kutsche K, Auber B, Christmann A, Bachmann N, Mitter D, Cremer FW, Mayer K, Daumer-Haas C, Nevinny-Stickel-Hinzpeter C, Oeffner F, Schlüter G, Gencik M, Überlacker B, Lissewski C, Schanze I, Greene MH, Spix C, Zenker M. Kratz CP, et al. Among authors: eichhorn b. Br J Cancer. 2015 Apr 14;112(8):1392-7. doi: 10.1038/bjc.2015.75. Epub 2015 Mar 5. Br J Cancer. 2015. PMID: 25742478 Free PMC article.

4

LZTR1 loss-of-function variants associated with café au lait macules with or without freckling.

Horn S, Neuhann T, Hennig C, Abad-Perez A, Prott EC, Cardellini L, Potratz C, Leubner J, Eichhorn B, Merkel M, Abicht A, Kaindl AM. Horn S, et al. Among authors: eichhorn b. Front Neurol. 2024 Aug 27;15:1391425. doi: 10.3389/fneur.2024.1391425. eCollection 2024. Front Neurol. 2024. PMID: 39258154 Free PMC article.

5

The Role of Social Determinants in Diagnosis Timing for Fetal Care Center-Eligible Conditions: A Scoping Review.

Wilpers AB, Eichhorn B, Batten J, Francis K, Powne AB, Jumale S, Hansen K, Kohari K, Lorch SA. Wilpers AB, et al. Among authors: eichhorn b. Diagnostics (Basel). 2024 Jul 12;14(14):1503. doi: 10.3390/diagnostics14141503. Diagnostics (Basel). 2024. PMID: 39061640 Free PMC article. Review.

6

Prospective evaluation of NGS-based sequencing in epilepsy patients: results of seven NASGE-associated diagnostic laboratories.

Witzel MGW, Gebhard C, Wenzel S, Kleier S, Eichhorn B, Lorenz P, von der Heyden L, Kuhn M, Luedeke M, Döcker M, Jüngling J, Schulte B, Hörtnagel K, Glaubitz R, Knippenberger S, Teubert A, Abicht A, Neuhann TM. Witzel MGW, et al. Among authors: eichhorn b. Front Neurol. 2023 Dec 6;14:1276238. doi: 10.3389/fneur.2023.1276238. eCollection 2023. Front Neurol. 2023. PMID: 38125836 Free PMC article.

7

Fetal Care Nursing-The Birth of a Specialty.

Francis K, Wilpers A, Eichhorn B, Rimbos K, Pedersen N, Gosnell KA. Francis K, et al. Among authors: eichhorn b. Nurs Womens Health. 2023 Aug;27(4):301-307. doi: 10.1016/j.nwh.2023.04.005. Epub 2023 Jun 1. Nurs Womens Health. 2023. PMID: 37271181

8

Antenatal Milk Expression as a Lactation Support Intervention for Parents of Infants With Severe Birth Defects: A Case Series.

Davis JA, Glasser M, Clemens M, Eichhorn B, Vats K, Demirci JR. Davis JA, et al. Among authors: eichhorn b. J Perinat Neonatal Nurs. 2022 Oct-Dec 01;36(4):E25-E30. doi: 10.1097/JPN.0000000000000680. J Perinat Neonatal Nurs. 2022. PMID: 36288447 Free PMC article.

9

Understanding Sociodemographic Disparities in Maternal-Fetal Surgery Study Participation.

Wilpers A, Lynn AY, Eichhorn B, Powne AB, Lagueux M, Batten J, Bahtiyar MO, Gross CP. Wilpers A, et al. Among authors: eichhorn b. Fetal Diagn Ther. 2022;49(3):125-137. doi: 10.1159/000523867. Epub 2022 Mar 10. Fetal Diagn Ther. 2022. PMID: 35272297 Free PMC article. Review.

10

Understanding Dimethyl Methylphosphonate Adsorption and Decomposition on Mesoporous CeO₂.

Li T, Tsyshevsky R, Algrim L, McEntee M, Durke EM, Eichhorn B, Karwacki C, Zachariah MR, Kuklja MM, Rodriguez EE. Li T, et al. Among authors: eichhorn b. ACS Appl Mater Interfaces. 2021 Nov 17;13(45):54597-54609. doi: 10.1021/acsami.1c16668. Epub 2021 Nov 3. ACS Appl Mater Interfaces. 2021. PMID: 34730932

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