Results 191 to 200 of about 904,891 (304)

Chromosomal Abnormalities, Drug Sensitivity and Resistance in Hematological Malignancies: A Comprehensive Overview by the Francophone Group of Hematological Cytogenetics (GFCH)

American Journal of Hematology, EarlyView.
ABSTRACT Chromosomal abnormalities have a major clinical impact on hematological malignancies, particularly with regard to treatment strategies. To preserve and consolidate fundamental knowledge in this rapidly evolving field, the Francophone Group of Hematological Cytogenetics (Groupe Francophone de Cytogénétique Hématologique, GFCH) conducted a ...
Florence Nguyen‐Khac, Audrey Bidet, Elise Chapiro, Nathalie Douet‐Guilbert, Jean‐Baptiste Gaillard, Nada Assaf, Nathalie Auger, Hend Chaker, Jasmine Chauzeix, Inge Govaerts, Hippolyte Guérineau, Christine Lefebvre, Pauline Roynard, Hélène Guermouche, Lucienne Michaux, Marie‐Bérengère Troadec, Lauren Véronèse   +16 more
wiley   +1 more source

P543: Prenatal aneuploidy screening and testing decisions: A qualitative study of patient motivations and misconceptions in the age of cell-Free DNA

Genetics in Medicine Open
Margaret Thorsen, Rose Mahoney, Paola Jiménez Muñoz, Stephanie Nunez, Melissa Russo   +4 more
doaj   +1 more source

Red blood cell transfusion is not associated with lymphocyte subpopulation counts in very low birthweight infants. [PDF]

Mol Cell Pediatr
Oßmann N, Fortmann MI, Faust K, Pagel J, Demmert M, Härtel C, Humberg A.   +6 more
europepmc   +1 more source

Accidents in the Chemical Industry: A Scoping Review Focused on Causal Factors

American Journal of Industrial Medicine, EarlyView.
ABSTRACT Background Although occupational safety in the chemical industry is an area of ongoing research worldwide, chemical incidents continue to occur, indicating the need to review the causes, assist in safety management, and identify problems in the quality of reporting. Methods A systematic search of studies published in English between January 1,
Željka Babić, Emin Veledar, Zrinka Franić, Franka Šakić, Mojca Dobaja Borak, Lucija Šarc, Jelena Macan, Miran Brvar   +7 more
wiley   +1 more source

Attention and Word Learning (@WL) study: protocol for a longitudinal study examining early predictors of coordinated visual attention and word learning in preterm and full-term infants. [PDF]

BMJ Open
Fu X, Goldschlager J, Murphy H, Hu J, Yurkovic-Harding J, Yu C, Bradshaw J.   +6 more
europepmc   +1 more source

Severe Phenotype in an Indian Family With Progressive Pseudorheumatoid Arthropathy of Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive pseudorheumatoid arthropathy of childhood (PPAC) is a rare autosomal recessive progressive condition that affects the cartilage of joints and bones. The symptoms of PPAC include stiffness of the joints, bony swelling of the toes and fingers, short stature, kyphosis, and muscle weakness.
Narinder Singh, Arpita Neogi, Liliane H. Gibbs, Jagdish Soni, Elizabeth Chao, Virginia Kimonis   +5 more
wiley   +1 more source

Factors associated with energy intake at 28 days in preterm infants: a prospective cohort study. [PDF]

Eur J Pediatr
Lee JK, Khor SP, Mariapun J, Zakaria A, Chow HL, Abdullah N, Bah MNM, Law JW, Lee LH, Ramadas A, Letchumanan V.   +10 more
europepmc   +1 more source

COX14 Variants Are Associated With Mitochondrial Complex IV Deficiency Nuclear Type 10 (MC4DN10)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT COX14 encodes a transmembrane protein essential for cytochrome c oxidase (COX) complex assembly. A homozygous missense variant in COX14 was reported in three siblings from a single consanguineous family with severe, fatal infantile mitochondrial complex IV deficiency nuclear type 10 (MC4DN10; MIM# 619053).
Elias K. Awad, Emily Waskow, Hari Tunuguntla, Joseph Spinner, Hanna J. Tadros, Lisa T. Emrick, Daniel G. Calame, Fernando Scaglia   +7 more
wiley   +1 more source

Neurodevelopmental Outcomes of Very Preterm Infants Who Underwent Neonatal Gastrointestinal Surgery: A Single-Center Retrospective Cohort Study. [PDF]

Yonsei Med J
Kim JH, Shim S, Lin CY, Jeong Y, Lee S, Baek SH, Han J, Eun H, Park MS, Ho IG, Shin JE.   +10 more
europepmc   +1 more source

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops‐Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases.
Stephanie M. Rice, Mona M. Makhamreh, Sascha Wodoslawsky, Mariella Toro, Elizabeth Critchlow, Brandy Firman, Ruby Liu, Babi Ramesh Nallamilli, Madhuri Hegde, Seth I. Berger, Huda B. Al‐Kouatly   +10 more
wiley   +1 more source