Results 111 to 120 of about 2,254,317 (172)

Abstracts

Molecular Oncology, Volume 19, Issue S1, Page 1-940, June 2025.
Abstracts submitted to the ‘EACR 2025 Congress: Innovative Cancer Science’, from 16–19 June 2025 and accepted by the Congress Organising Committee are published in this Supplement of Molecular Oncology, an affiliated journal of the European Association for Cancer Research (EACR).
wiley   +1 more source

Shwachman Diamond Syndrome – A diagnostic challenege

Pediatric Hematology Oncology Journal, 2022
Vagisha Sharma, Sheetal Ahuja, Amitabh Singh   +2 more
doaj   +1 more source

Shwachman-Diamond syndrome - etiology, symptoms, diagnosis, treatment, prognosis

Quality in Sport
Shwachman–Diamond syndrome (SDS) is a rare inherited disorder with exocrine pancreatic insufficiency, bone marrow dysfunction, and skeletal anomalies.
Paulina Klaudia Kwaśniewska, Katarzyna Chmura, Barbara Zimnoch, Katarzyna Rendaszka, Katarzyna Kowalska, Marta Pyziołek, Marta Bonarska, Małgorzata Stróżna, Joanna Monika Najbar   +8 more
doaj   +1 more source

Content of cobalt in biological fluidsoffull-term newborns as the predictor of perinatal hypoxic damage of CNS [PDF]

, 2015
Influence of Co content on the system mother-placenta-fetus-newborn children born with hypoxia. Determination of microelement (ME) performed in serum and erythrocytes 30 pregnant women and their infants who have suffered asphyxia at birth.
Kasyan, S.V., Nwokie, Оbinna, Tarasova, Iryna Vitaliivna, Тарасова, Ирина Витальевна, Тарасова, Ірина Віталіївна   +4 more
core  

Shwachman–Diamond Syndrome: A Rare Possibility in a Child with Failure to Thrive and Recurrent Infections - A Case Report

Indian Pediatrics Case Reports
Shwachman–Diamond Syndrome (SDS) is a rare inherited autosomal recessive multisystem disorder, with features of pancreatic exocrine insufficiency, skeletal malformations, immunodeficiency, and bone marrow failure having a high risk of myeloid ...
Vagisha Sharma, Neha Goel, Amitabh Singh, Satnam Kaur   +3 more
semanticscholar   +1 more source

Shwachman–Diamond syndrome: A case report

Asian Journal of Surgery, 2023
Qiong Tang, Xiao-min Ye, Yi-can Yang, Xiang-Lan Wen   +3 more
doaj   +1 more source

Importância do estudo multigénico no diagnóstico molecular de doenças raras por sequenciação de nova geração [PDF]

, 2019
Introdução: A sequenciação de nova geração (NGS) revolucionou o diagnóstico molecular das doenças raras (DR) proporcionando a análise de um maior número de genes, resultados mais rápidos e custos reduzidos. A NGS usando diferentes abordagens, possibilita
Gonçalves, João, Oliveira, Beatriz, Pereira Caetano, Iris, Rodrigues, Pedro, Theisen, Patrícia   +4 more
core  

Very rare case of persistent neutropenia [PDF]

, 2015
In the Haematology Department of Sumy Regional Child Clinic Hospital, there was a child with the syndrome of persistent ...
Tabansi, V., Tutuola, M.
core  

Management Of Dental Caries In Shwachman-Diamond Syndrome Children

International Dental Journal
Introduction: Shwachman-Diamond syndrome (SDS), a rare autosomal recessive disorder caused by SBDS gene mutations (c.258+2T>C in homozygous state), presents significant challenges in dental care due to rapid caries progression and systemic complications.
Maria Sarapultseva, Alexey Sarapultsev
doaj   +1 more source

Poster Sessions

HemaSphere, Volume 9, Issue S1, June 2025.
wiley   +1 more source