المؤلفون: Allison L. Welter, Yuichi J. Machida

المصدر: Frontiers in Molecular Biosciences, Vol 9 (2022)

مصطلحات موضوعية: FAM111A, FAM111B, protease, viral replication, Kenny-Caffey Syndrome (KCS), POIKTMP, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmolb.2022.1081166/full; https://doaj.org/toc/2296-889X

URL الوصول: https://doaj.org/article/2e9d5a888b6f46fba73dccebdfc54075

المؤلفون: Rosato, Simonetta, Unger, Sheila, Campos-Xavier, Belinda, Caraffi, Stefano Giuseppe, Beltrami, Laura, Pollazzon, Marzia, Ivanovski, Ivan, Castori, Marco, Bonasoni, Maria Paola, Comitini, Giuseppina, Nikkels, Peter G J, Lindstrom, Kristin, Umandap, Christine, Superti-Furga, Andrea, Garavelli, Livia

المصدر: Rosato, Simonetta; Unger, Sheila; Campos-Xavier, Belinda; Caraffi, Stefano Giuseppe; Beltrami, Laura; Pollazzon, Marzia; Ivanovski, Ivan; Castori, Marco; Bonasoni, Maria Paola; Comitini, Giuseppina; Nikkels, Peter G J; Lindstrom, Kristin; Umandap, Christine; Superti-Furga, Andrea; Garavelli, Livia (2022). Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features. Genes, 13:261.

مصطلحات موضوعية: Institute of Medical Genetics, 570 Life sciences, biology, 610 Medicine & health, Genetics (clinical), Genetics osteocraniostenosis (OCS), Kenny‐Caffey syndrome (KCS), FAM111A, cloverleaf skull, gracile bone dysplasia, hypoplastic spleen, asplenia, microphthalmia

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/214437/1/genes-13-00261.pdf; info:pmid/35205306; urn:issn:2073-4425

الاتاحة: https://www.zora.uzh.ch/id/eprint/214437/
https://doi.org/10.3390/genes13020261

المؤلفون: Christodoulou L, Krishnaiah A, Spyridou C, Salpietro V, Hannan S, Saggar A, Mankad K, Deep A, Kinali M

المساهمون: Christodoulou, L, Krishnaiah, A, Spyridou, C, Salpietro, V, Hannan, S, Saggar, A, Mankad, K, Deep, A, Kinali, M

مصطلحات موضوعية: Kenny Caffey syndrome (KCS), respiratory system, gastrointestinal, tubulin-specific chaperone E (TBCE) gene

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000214948400020; volume:5; firstpage:476; lastpage:479; numberofpages:4; journal:QUANTITATIVE IMAGING IN MEDICINE AND SURGERY; http://hdl.handle.net/11567/981557

الاتاحة: http://hdl.handle.net/11567/981557
https://doi.org/10.3978/j.issn.2223-4292.2014.11.18

المؤلفون: Christodoulou, L, Krishnaiah, A, Spyridou, C, Salpietro, V, Hannan, S, Saggar, A, Mankad, K, Deep, A, Kinali, M

مصطلحات موضوعية: tubulin-specific chaperone E (TBCE) gene, Kenny Caffey syndrome (KCS), respiratory system, gastrointestinal

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3710::91f56deb8705263b44641f37894eab65
http://hdl.handle.net/11567/981557