Diagnostic challenges in CFTR-related metabolic syndrome: Where the guidelines fall short

Autor: Kallam, Erin F., Kasi, Ajay S., Barr, Eileen, Linnemann, Rachel W., Guglani, Lokesh

Publikováno v: In Paediatric Respiratory Reviews March 2024 49:28-33

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sj-docx-5-jpx-10.1177_23743735221112629 - Supplemental material for Evaluating Differences in the Disease Experiences of Minority Adults With Cystic Fibrosis

Autor: Hutchins, Kia, Barr, Eileen, Bellcross, Cecelia, Ali, Nadia, Hunt, William R.

Supplemental material, sj-docx-5-jpx-10.1177_23743735221112629 for Evaluating Differences in the Disease Experiences of Minority Adults With Cystic Fibrosis by Kia Hutchins, Eileen Barr, Cecelia Bellcross, Nadia Ali and William R. Hunt in Journal of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::44cc791b29c2342cb4681fd7ecd45d4c

sj-docx-3-jpx-10.1177_23743735221112629 - Supplemental material for Evaluating Differences in the Disease Experiences of Minority Adults With Cystic Fibrosis

Autor: Hutchins, Kia, Barr, Eileen, Bellcross, Cecelia, Ali, Nadia, Hunt, William R.

Supplemental material, sj-docx-3-jpx-10.1177_23743735221112629 for Evaluating Differences in the Disease Experiences of Minority Adults With Cystic Fibrosis by Kia Hutchins, Eileen Barr, Cecelia Bellcross, Nadia Ali and William R. Hunt in Journal of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8218a7aac203c0b95f5f5f3251f8d912

EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum

Autor: H��ffmeier, Ulrike, Kraus, Cornelia, Reuter, Miriam S, Uebe, Steffen, Abbott, Mary-Alice, Ahmed, Syed A, Rawson, Kristyn L, Barr, Eileen, Li, Hong, Bruel, Ange-Line, Faivre, Laurence, Tran Mau-Them, Fr��d��ric, Botti, Christina, Brooks, Susan, Burns, Kaitlyn, Ward, D Isum, Dutra-Clarke, Marina, Martinez-Agosto, Julian A, Lee, Hane, Nelson, Stanley F, Zacher, Pia, Abou Jamra, Rami, Kl��ckner, Chiara, McGaughran, Julie, Kohlhase, J��rgen, Schuhmann, Sarah, Moran, Ellen, Pappas, John, Raas-Rothschild, Annick, Sacoto, Maria J Guillen, Henderson, Lindsay B, Palculict, Timothy Blake, Mullegama, Sureni V, Zghal Elloumi, Houda, Reich, Adi, Schrier Vergano, Samantha A, Wahl, Erica, Reis, Andr��, Zweier, Christiane

Publikováno v: Orphanet Journal of Rare Diseases
Hüffmeier, Ulrike; Kraus, Cornelia; Reuter, Miriam S; Uebe, Steffen; Abbott, Mary-Alice; Ahmed, Syed A; Rawson, Kristyn L; Barr, Eileen; Li, Hong; Bruel, Ange-Line; Faivre, Laurence; Tran Mau-Them, Frédéric; Botti, Christina; Brooks, Susan; Burns, Kaitlyn; Ward, D Isum; Dutra-Clarke, Marina; Martinez-Agosto, Julian A; Lee, Hane; Nelson, Stanley F; ... (2021). EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum. Orphanet journal of rare diseases, 16(1), p. 136. BioMed Central 10.1186/s13023-021-01744-1

Background An identical homozygous missense variant in EIF3F, identified through a large-scale genome-wide sequencing approach, was reported as causative in nine individuals with a neurodevelopmental disorder, characterized by variable intellectual d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c030976d24aa0e2895bd4c27349a1a1
https://opus4.kobv.de/opus4-fau/files/17672/s13023-021-01744-1.pdf