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Abnormal biomarkers predict complex FAS or FADD defects missed by exome sequencing.
Rensing-Ehl A, Lorenz MR, Führer M, Willenbacher W, Willenbacher E, Sopper S, Abinun M, Maccari ME, König C, Haegele P, Fuchs S, Castro C, Kury P, Pelle O, Klemann C, Heeg M, Thalhammer J, Wegehaupt O, Fischer M, Goldacker S, Schulte B, Biskup S, Chatelain P, Schuster V, Warnatz K, Grimbacher B, Meinhardt A, Holzinger D, Oommen PT, Hinze T, Hebart H, Seeger K, Lehmberg K, Leahy TR, Claviez A, Vieth S, Schilling FH, Fuchs I, Groß M, Rieux-Laucat F, Magerus A, Speckmann C, Schwarz K, Ehl S; ALPS Study Group. Rensing-Ehl A, et al. Among authors: chatelain p. J Allergy Clin Immunol. 2024 Jan;153(1):297-308.e12. doi: 10.1016/j.jaci.2023.11.006. Epub 2023 Nov 17. J Allergy Clin Immunol. 2024. PMID: 37979702
Effect of Recombinant Gonadotropin on Testicular Function and Testicular Sperm Extraction in Five Cases of NR0B1 (DAX1) Pathogenic Variants.
Teoli J, Mezzarobba V, Renault L, Mallet D, Lejeune H, Chatelain P, Tixier F, Nicolino M, Peretti N, Giscard D'estaing S, Cuzin B, Dijoud F, Roucher-Boulez F, Plotton I. Teoli J, et al. Among authors: chatelain p. Front Endocrinol (Lausanne). 2022 Mar 30;13:855082. doi: 10.3389/fendo.2022.855082. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 35432221 Free PMC article.
448 results