Results 201 to 210 of about 1,381,466 (410)

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley, Merlene Peter, Heba H. Akbari, Jelena Ivanisevic, Alexander Ing, Kelly Regan‐Fendt, Patrick McMullen, Kai Lee Yap   +7 more
wiley   +1 more source

RETRACTION: Anemia and Contributing Factors in Severely Malnourished Infants and Children Aged between 0 and 59 Months Admitted to the Treatment Centers of the Amhara Region, Ethiopia: A Multicenter Chart Review Study

Anemia
null Anemia
doaj   +1 more source

Platelet-to-lymphocyte ratio as a potential marker for routine management of renal anemia in maintenance hemodialysis patients: A single-center observational study. [PDF]

Medicine (Baltimore)
Yang T, Zhang J, Cao T, Liu C.
europepmc   +1 more source

Fanconi anemia (Aplastic Anemia)

Fanconi anemia (Aplastic Anemia)
application ...
openaire  

A Population‐Based Assessment of Cancer Risk in Children With VACTERL

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cancer risk in children with VACTERL, a nonrandom co‐occurrence of ≥ 3 defects (vertebral, anal, cardiac, tracheoesophogeal fistula, renal, and limb), remains unclear. We evaluated this association in a population‐based study. We analyzed data from the Genetic Overlap Between Anomalies and Cancer in Kids (GOBACK) Study, a US registry linkage ...
Ji Yun Tark, Alexander Renwick, Giorgio Tettamanti, Rachel D. Harris, Tania A. Desrosiers, Andrew F. Olshan, Amanda E. Janitz, Michael E. Scheurer, Charles J. Shumate, Angela E. Scheuerle, Sharon E. Plon, Chad D. Huff, Ann Nordgren, Barbara Luke, Philip J. Lupo, Jeremy M. Schraw   +15 more
wiley   +1 more source

Recent Advances in the Pathophysiology and Clinical Management of Anemia

, 2005
Hideaki Mizoguchi
openalex   +2 more sources

Prevalence of anemia and its predictors among patients with chronic kidney disease admitted to a teaching hospital in Ethiopia: A hospital-based cross-sectional study

, 2023
Filagot Bishaw, Maekel Belay Woldemariam, Gashahun Mekonen, Bezawit Birhanu, Abinet Abebe   +4 more
openalex   +1 more source

Can We Really Believe This Platelet Count?

American Journal of Hematology, EarlyView.
James Manning, Simona Deplano, Ketan Patel, Barbara J. Bain   +3 more
wiley   +1 more source

Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou, Gillian I. Rice, James O'Sullivan, Ben Parker, Ian N. Bruce, Emma Burkitt‐Wright, Tracy A. Briggs   +6 more
wiley   +1 more source

Multi-class machine learning classification and important features on anemia among women in Tanzania and Rwanda. [PDF]

BMC Public Health
Kebede SG, Worku WK, Setegn GM, Yihuna YK.   +3 more
europepmc   +1 more source