Results 211 to 220 of about 120,158 (339)

EARLY PRENATAL DIAGNOSTICS OF INBORN HEART DISEASES OF FETUSES WITH NUCHAL TRANSLUCENCY

, 2008
E.A. Shevchenko
openalex   +1 more source

A cohort of allogeneic hematopoietic stem cell transplantation for pediatric rare diseases (allo-HSCT-PRD): design and preliminary results. [PDF]

Ann Hematol
Hu S, Wang P, Li Z, Jiang W, Liu L, Ma W, Huang Y, Wang X, Du X, Qian X, Wang H, Wang Y, Zhang Y, Zhai X.   +13 more
europepmc   +1 more source

Giant Choledochal Cyst in a Child With Spinocerebellar Ataxia: A Potential Molecular Link Through Aberrant Cytosolic Calcium Signaling

American Journal of Medical Genetics Part A, EarlyView.
Hiromi Sumitomo, Tomoyuki Akiyama, Tadashi Kaname, Toshiki Takenouchi   +3 more
wiley   +1 more source

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

Correction: A survey of diagnosis and therapy of inborn errors of immunity among practice-based physicians and clinic-based pneumologists and hemato-oncologists. [PDF]

Front Immunol
Lehrnbecher T, Russo A, Rohde G.
europepmc   +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

Metabolic studies following orthotopic liver transplantation [PDF]

, 1971
Starzl, TE
core  

Interpreting whole-genome sequencing data during neonatal Klebsiella oxytoca complex outbreak management. [PDF]

Antimicrob Resist Infect Control
Minotti C, Robinson E, Schlaepfer P, Pohl C, Goldenberger D, Schulzke SM, Keller PM, Bielicki JA.   +7 more
europepmc   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Autoimmune cytopenias in inborn errors of immunity: associations with monogenic mutations and immunologic parameters. [PDF]

BMC Immunol
Sağun F, Çölkesen F, Gerek ME, Savaş ŞA, Kolak S, Harman E, Arslan Ş.   +6 more
europepmc   +1 more source