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Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism.
Schänzer A, Achleitner MT, Trümbach D, Hubert L, Munnich A, Ahlemeyer B, AlAbdulrahim MM, Greif PA, Vosberg S, Hummer B, Feichtinger RG, Mayr JA, Wortmann SB, Aichner H, Rudnik-Schöneborn S, Ruiz A, Gabau E, Sánchez JP, Ellard S, Homfray T, Stals KL, Wurst W, Neubauer BA, Acker T, Bohlander SK, Asensio C, Besmond C, Alkuraya FS, AlSayed MD, Hahn A, Weber A. Schänzer A, et al. Among authors: aichner h. Ann Neurol. 2021 Jul;90(1):143-158. doi: 10.1002/ana.26127. Epub 2021 Jun 5. Ann Neurol. 2021. PMID: 33999436 Free PMC article.
A critical appraisal of tools for delivery room assessment of the newborn infant.
Niemuth M, Küster H, Simma B, Rozycki H, Rüdiger M; European Society for Paediatric Research (ESPR) Neonatal Resuscitation Section Writing Group; Solevåg AL. Niemuth M, et al. Pediatr Res. 2021 Dec 30. doi: 10.1038/s41390-021-01896-7. Online ahead of print. Pediatr Res. 2021. PMID: 34969993 Review.
The newborn delivery room of tomorrow: emerging and future technologies.
Batey N, Henry C, Garg S, Wagner M, Malhotra A, Valstar M, Smith T, Sharkey D; European Society for Paediatric Research (ESPR) Neonatal Resuscitation Section Writing Group. Batey N, et al. Pediatr Res. 2022 Mar 3. doi: 10.1038/s41390-022-01988-y. Online ahead of print. Pediatr Res. 2022. PMID: 35241791 Review.
Topiramate-induced metabolic acidosis: a case study.
Fernández-de Orueta L, Esteban-Fernández J, Aichner HF, Casillas-Villamor A, Rodríguez-Álvarez S. Fernández-de Orueta L, et al. Among authors: aichner hf. Nefrologia. 2012 May 14;32(3):403-4. doi: 10.3265/Nefrologia.pre2011.Dec.11308. Nefrologia. 2012. PMID: 22592431 Free article. English, Spanish. No abstract available.
[Listeria monocytogenes osteomyelitis].
Fernández de Orueta L, Esteban Fernández J, Aichner HF, Casillas Villamor A. Fernández de Orueta L, et al. Among authors: aichner hf. Med Clin (Barc). 2012 Jun 2;139(1):e1. doi: 10.1016/j.medcli.2011.10.009. Epub 2011 Dec 6. Med Clin (Barc). 2012. PMID: 22153782 Spanish. No abstract available.
21 results