Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Abdul Halim Kassim"'
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
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
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.