Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Erina Sasaki"'
Autor:
Chong Song, Yoichi Kakuta, Kenichi Negoro, Rintaro Moroi, Atsushi Masamune, Erina Sasaki, Naoki Nakamura, Masaharu Nakayama
Publikováno v:
Computer Methods and Programs in Biomedicine Update, Vol 3, Iss , Pp 100099- (2023)
Background and Objective: The collection of patient-generated health data (PGHD) is important for understanding a patient's daily status for efficient treatment. Mobile applications are effective for continuously collecting patient data, and it is de
Externí odkaz:
https://doaj.org/article/a88624905b41452a881569f390f0ee1f
Autor:
Abdul Halim Kassim, Erina Sasaki, Arndt Rolfs, Ronja Hotakainen, Peter Bauer, William Reardon, Kornelia Tripolszki, Catarina Pereira, Aida M. Bertoli-Avella
Publikováno v:
Clinical Genetics. 99:303-308
We describe an X-linked syndrome in 13 male patients from a single family with three generations affected. Patients presented prenatally or during the neonatal period with intrauterine growth retardation, ventriculomegaly, hydrocephalus, hypotonia, c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5296dc0f3f2dc1af55167e71a3ca2a8c
https://doi.org/10.1111/cge.13873
https://doi.org/10.1111/cge.13873
Publikováno v:
American Journal of Medical Genetics Part A. 182:2994-2998
We report clinical and radiological features of a patient born with an isolated skull malformation of caput membranaceum and partial bicoronal craniosynostosis with a novel, de novo heterozygous missense variant in ZIC1 [NM_003412.3:c.1183C>G, p.(Pro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d5eaf3cab2115d19845dd4f84375f707
https://doi.org/10.1002/ajmg.a.61882
https://doi.org/10.1002/ajmg.a.61882
Autor:
Antonio Novelli, Anthony Vandersteen, Paola Grammatico, Erina Sasaki, Fransiska Malfait, Maja Di Rocco, Cecilia Giunta, Nicoletta Zoppi, Silvia Morlino, Dario Cocciadiferro, Alessandro Ferraris, Tommaso Mazza, Annalisa Madeo, Marianne Rohrbach, Emanuele Agolini, Marco Ritelli, Marina Colombi, Lucia Micale, Alan Hakim, Marco Castori, Willie Reardon, Sara Mackay
Publikováno v:
Clinical Genetics. 97:396-406
The 2017 classification of Ehlers-Danlos syndromes (EDS) identifies three types associated with causative variants in COL1A1/COL1A2 and distinct from osteogenesis imperfecta (OI). Previously, patients have been described with variable features of bot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5a7d623f49339c311450887a1e477b6
https://doi.org/10.1111/cge.13683
https://doi.org/10.1111/cge.13683
Autor:
Tainá Regina Damaceno Silveira, Aida M. Bertoli-Avella, Arndt Rolfs, Daíse Moreno Sás, Willie Reardon, Peter Bauer, Charles Marques Lourenço, Maria Eugenia Rocha, Erina Sasaki, Christian Beetz, Krishna Kumar Kandaswamy
Publikováno v:
European Journal of Human Genetics
Intellectual disability (ID) is one of most frequent reasons for genetic consultation. The complex molecular anatomy of ID ranges from complete chromosomal imbalances to single nucleotide variant changes occurring de novo, with thousands of genes ide
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d3d27ba733d52194fe33b122bbd5bfd
https://doi.org/10.1038/s41431-019-0558-3
https://doi.org/10.1038/s41431-019-0558-3
Publikováno v:
2021 IEEE International Symposium on Antennas and Propagation and USNC-URSI Radio Science Meeting (APS/URSI).
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::06ee2c9d8d23a97a57e41e1a24f289e2
https://doi.org/10.1109/aps/ursi47566.2021.9704643
https://doi.org/10.1109/aps/ursi47566.2021.9704643
Autor:
null Erina Sasaki, null Ethna Phelan, null Mary O'Regan, null Abdul Halim Kassim, null Jan Miletin, null Corrina McMahon, null Maureen J. O'Sullivan, null Julia Baptista, null Sally Ann Lynch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a72396a0d92d31ae1182672a1a17b904
https://doi.org/10.1111/cge.14058/v3/response1
https://doi.org/10.1111/cge.14058/v3/response1
Autor:
Abdul Halim Kassim, Mary O'Regan, Erina Sasaki, Ethna Phelan, Julia Baptista, Corrina McMahon, Maureen J. O'Sullivan, Sally Ann Lynch, Jan Miletin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::903c11072c57356031492ff16a6fcdfd
https://doi.org/10.1111/cge.14058/v2/response1
https://doi.org/10.1111/cge.14058/v2/response1
Publikováno v:
Clinical Dysmorphology. 28:30-34
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4c6b2aaa38aaa30ad3f4d9af6febbc5
https://doi.org/10.1097/mcd.0000000000000238
https://doi.org/10.1097/mcd.0000000000000238
Autor:
Abdul Halim Kassim, Mary O'Regan, Maureen J. O'Sullivan, Jan Miletin, Sally Ann Lynch, Erina Sasaki, Ethna Phelan, Julia Baptista, Corrina McMahon
Publikováno v:
Clinical Genetics. 101:142-143
HK1 deficient Haemolytic Anaemia in association with a Neurological Phenotype & co-existing Meckel-Gruber due to CEP290 in a Romani family.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::017b219cd76c29919144041ed82ece42
https://doi.org/10.1111/cge.14058
https://doi.org/10.1111/cge.14058