Results 181 to 190 of about 22,374,088 (435)

Rare germline ATM variants predispose to secondary cancer in chronic lymphocytic leukaemia patients

open access: yes
Cancer Communications, EarlyView.
Anna Petrackova   +5 more
wiley   +1 more source

Optimization of the indications for allogeneic stem cell transplantation in Acute Myeloid Leukemia based on interactive diagnostic strategies [PDF]

open access: yes, 2011
The indications for allogeneic stem cell transplantation (SCT) in Acute Myeloid Leukemia (AML) represent a real challenge due to the clinical and genetic heterogeneity of the disorder.
Bacher, Ulrike   +5 more
core  

Comparative assessment of artificial intelligence chatbots' performance in responding to healthcare professionals' and caregivers' questions about Dravet syndrome

open access: yesEpilepsia Open, EarlyView.
Abstract Objective Artificial intelligence chatbots have been a game changer in healthcare, providing immediate, round‐the‐clock assistance. However, their accuracy across specific medical domains remains under‐evaluated. Dravet syndrome remains one of the most challenging epileptic encephalopathies, with new data continuously emerging in the ...
Joana Jesus‐Ribeiro   +4 more
wiley   +1 more source

Candidate genes for infertility: an in-silico study based on cytogenetic analysis. [PDF]

open access: yesBMC Med Genomics, 2022
Sahota JS   +3 more
europepmc   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

open access: yesEpilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola   +3 more
wiley   +1 more source

Multi-tissue cytogenetic analysis for the diagnosis of mosaic Down syndrome: A case report. [PDF]

open access: yesClin Case Rep, 2022
Moncada Arita WA   +6 more
europepmc   +1 more source

Cytogenetic Analysis of Spontaneous Miscarriage [PDF]

open access: yes, 2012
Approximately 15% of all clinically recognized pregnancies end in spontaneous miscarriage. The most frequent cause of spontaneous miscarriage is fetal chromosome abnormalities such as autosomal trisomy, monosomy X and polyploidy. In this chapter, cytogenetic abnormalities associated with spontaneous miscarriage are reviewed based on the latest studies.
openaire   +3 more sources

A survey of chromosome anomalies in Malta [PDF]

open access: yes, 1989
433 individuals referred for chromosome analysis between 1983 and 1987 were included in the survey. Among individuals with dysmorphic features or congenital anomalies 42% of babies referred in the neonatal period and 12 to 30% of individuals in older age
Cuschieri, Alfred, Gauci, Sandra
core  

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