受强制性开放获取政策约束的文章 - Baris Malbora (ORCID NO: 0000-0003-4838-814X)了解详情
可在其他位置公开访问的文章：6 篇
Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care
I Ivanovski, O Djuric, SG Caraffi, D Santodirocco, M Pollazzon, S Rosato, ...
Genetics in Medicine 20 (9), 965-975, 2018
强制性开放获取政策： Fondazione Telethon, Italy
Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients
L Garavelli, I Ivanovski, SG Caraffi, D Santodirocco, M Pollazzon, ...
Genetics in Medicine 19 (6), 691-700, 2017
强制性开放获取政策： US National Institutes of Health, Fondazione Telethon, Italy
CHARGE‐like presentation, craniosynostosis and mild Mowat–Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases
TL Wenger, M Harr, S Ricciardi, E Bhoj, A Santani, MP Adam, SS Barnett, ...
American Journal of Medical Genetics Part A 164 (10), 2557-2566, 2014
强制性开放获取政策： US National Institutes of Health
Mowat-Wilson syndrome: growth charts
I Ivanovski, O Djuric, S Broccoli, SG Caraffi, P Accorsi, MP Adam, K Avela, ...
Orphanet journal of rare diseases 15, 1-12, 2020
强制性开放获取政策： Fondazione Telethon, Italy
cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome
C Kuptanon, M Morimoto, ER Nicoli, J Stephen, DS Yarnell, H Dorward, ...
Frontiers in Genetics 14, 1072784, 2023
强制性开放获取政策： US National Institutes of Health
A homozygous duplication of the FGG exon 8-intron 8 junction causes congenital afibrinogenemia. Lessons learned from the study of a large consanguineous Turkish family
M Guipponi, F Masclaux, F Sloan-Béna, C Di Sanza, N Özbek, F Peyvandi, ...
haematologica 107 (5), 1064, 2021
强制性开放获取政策： Swiss National Science Foundation
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