Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Sotossyndrome"'
Autor:
Sosonkina, Nadiya, Miyake, Noriko, Harada, Naoki, Starenki, Dmytro, Ohta, Tohru, Fukushima, Yoshimitsu, Kosho, Tomoki, Niikawa, Norio, Matsumoto, Naomichi
Publikováno v:
Acta medica Nagasakiensia. 52(1):29-34
Sotos syndrome (SoS, OMIM #117550) is an autosomal dominant overgrowth syndrome with pre- and postnatal excessive growth, characteristic craniofacial features, and variable degrees of developmental delay. Haploinsufficiency of the nuclear receptor bi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::28ed32816a27cf351edc0f379d45d044
https://nagasaki-u.repo.nii.ac.jp/records/22662
https://nagasaki-u.repo.nii.ac.jp/records/22662
Autor:
Perdue, Samantha, Newberry, Desi
Publikováno v:
Advances in Neonatal Care (Lippincott Williams & Wilkins); Oct2023, Vol. 23 Issue 5, p409-417, 9p
Autor:
Hansen, A. B., Wøjdemann, D., Renault, C. H., Pedersen, A. T., Main, K. M., Raket, L. L., Jensen, R. B., Juul, A.
Publikováno v:
European Journal of Endocrinology; 2021, Vol. 184 Issue 1, pR17-R28, 12p
Autor:
TOKGÜN, Pervin Elvan
Publikováno v:
Volume: 35, Issue: 2 239-244
Dokuz Eylül Üniversitesi Tıp Fakültesi Dergisi
Dokuz Eylül Üniversitesi Tıp Fakültesi Dergisi
Sotos syndrome which autosomal dominantinheritance has been observed, caused by the mutationsand deletions in NSD1 gene. NSD1 gene consists 23exons and localizes on chromosome 5q35.3. Theprevalance of the Sotos syndrome is 1:14000 live birthsand the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=tubitakulakb::d110e0fe1fb5ff1b65239b1b7c477ec6
https://dergipark.org.tr/tr/pub/deutip/issue/69259/1097234
https://dergipark.org.tr/tr/pub/deutip/issue/69259/1097234
Publikováno v:
Journal of Medical Genetics; Feb2002, Vol. 39 Issue 2, p145-152, 8p, 8 Black and White Photographs, 1 Chart
Autor:
Amiel, J., Faivre, L., Wilson, L., Le Merrer, M., Munnich, A., Winter, R., Lyonnet, S., Cormier-Daire, V.
Publikováno v:
Journal of Medical Genetics; Feb2002, Vol. 39 Issue 2, p148-152, 5p, 12 Black and White Photographs, 2 Charts
Autor:
Rossella Parini, Generoso Andria
The last fifteen years have witnessed the extraordinary evolution of basic and clinical research in the field of lysoso-mal storage diseases (LSDs), transforming many of them from dire, untreatable progressive diseases to conditions that allow for po
Autor:
William Reardon
A highly illustrated field guide to dysmorphology, a key area of clinical genetics and a vital competency for all clinicians. Oxford Genetics is a comprehensive, cross-searchable collection of resources offering quick and easy access to Oxford Univer
Autor:
Christopher E. M. Griffiths, Jonathan Barker, Tanya O. Bleiker, Walayat Hussain, Rosalind C. Simpson
The latest edition of the world's leading dermatology textbook Rook's Textbook of Dermatology, 10th Edition is the most definitive, comprehensive and illustrated reference work in dermatology worldwide. Fully updated by experts from around the world,