Results 271 to 280 of about 2,712,368 (347)

Expanding Access to Genome Sequencing: Higher Diagnostic Yield in Self‐Referred Participants From the CincyKidsSeq Study and Implications for Hybrid Models of Genetic Service Delivery

Clinical Genetics, EarlyView.
Genome sequencing helped find answers for 1 in 5 children with rare conditions in an outpatient study looking at hybrid genetic care delivery. Families who chose testing themselves had the highest diagnostic yield, showing that self‐referral may be a helpful way to improve access to genetic care.
Kristin Theobald, Amelle Shillington, Farrah Jackson, Jaime Lopes, Casey J. Brewer, Brian Dawson, Gang Wu, James Denton, Mike Pauciulo, Xue Zhang, Anne Slavotinek   +10 more
wiley   +1 more source

Safety and effectiveness of the combination of 5‐azacitidine and ruxolitinib in VEXAS syndrome: A single‐centre experience

British Journal of Haematology, EarlyView.
Gregorio Maria Bergonzi, Enrico Cozzo, Alessandro Tomelleri, Costanza Piccolo, Gianluca Scorpio, Carmelo Gurnari, Francesca Romano, Marco Matucci‐Cerinic, Lorenzo Dagna, Massimo Bernardi, Luca Vago, Fabio Ciceri, Corrado Campochiaro, Elisa Diral   +13 more
wiley   +1 more source

Parental counselling and autopsy results: A retrospective diagnostic cohort study at a multidisciplinary fetal neurology clinic

Developmental Medicine &Child Neurology, EarlyView.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.70022 Abstract Aim To examine the accuracy of prenatal counselling at a multidisciplinary fetal neurology clinic (FNC) that led to termination of pregnancy (TOP), to improve the quality of future consultations. Method This retrospective diagnostic cohort study compared the imaging
Avi Shariv, Michal Gafner, Zvi Leibovitz, Letizia Schreiber, Dvora Kidron, Ayala Arad, Efrat Hadi, Stephanie Libzon, Liat Ben Sira, Maya Goldschmidt Manor, Dorit Lev, Tally Lerman‐Sagie, Liat Gindes   +12 more
wiley   +1 more source

Comparative analyses of three swallow species (Aves, Passeriformes, Hirundinidae): Insights on karyotype evolution and genomic organization. [PDF]

Genet Mol Biol, 2020
Barcellos SA, Kretschmer R, Souza MS, Costa AL, Degrandi TM, Lopes CF, Ferguson-Smith MA, Pereira J, Oliveira EHC, Gunski RJ, Garnero ADV.   +10 more
europepmc   +1 more source

Exploring the synergy between telomere length and genomic complexity in CLL

British Journal of Haematology, EarlyView.
Silvia Ramos‐Campoy, Anna Puiggros, Joanna Kamaso, Helen Parker, Gian Matteo Rigolin, Claudia Haferlach, María José Larráyoz, Rosa Collado, Rocío Salgado, María José Calasanz, Laurence Etter, Alberto Valiente, Pau Abrisqueta, Francesc Bosch, Eva Gimeno, Antonio Cuneo, Florence Nguyen‐Khac, Jacqueline Schoumans, Jonathan C. Strefford, Blanca Espinet   +19 more
wiley   +1 more source

Improvements in Real‐World Survival in the Setting of a Recent Paradigm Shift in Acute Myeloid Leukemia Treatment

European Journal of Haematology, EarlyView.
ABSTRACT Therapeutic options for newly diagnosed (ND) acute myeloid leukemia (AML) have increased in recent years, leading to a shift in the treatment paradigm from conventional, intensive chemotherapy toward targeted and less intensive therapy. Since 2017, there has been a surge in FDA approvals for novel therapies, including small molecule inhibitors
Thuy N. Ho, Patrick Willard, Graeme F. Murray, Li Liu, Nolan Wages, Hyun Lee, Keri R. Maher   +6 more
wiley   +1 more source

New contributions to the study of Corixoidea: cytogenetic characterization of three species of Sigara from Argentina and the plausible mechanisms of karyotype evolution within Nepomorpha

, 2007
María José Bressa, A. G. Papeschi
openalex   +1 more source

From Chromosome Karyotyping to Genomic Precision: The Evolution of Diagnostic Technologies in Medicine [PDF]

Liu R
openalex   +1 more source

Decision letter: Loss of centromere function drives karyotype evolution in closely related Malassezia species

, 2020
Wolf‐Dietrich Heyer, Paul B. Talbert
openalex   +1 more source

Syndromic and etiological classification predicts seizure freedom in childhood and youth onset epilepsy: A population‐based study from the Norwegian Mother, Father, and Child Cohort Study

Epilepsia, EarlyView.
Abstract Objective This study was undertaken to determine the proportion of individuals with childhood and youth onset epilepsy who attain seizure freedom across seizure types, epilepsy types, etiologies, and syndromes using the latest International League Against Epilepsy (ILAE) classifications.
Truls Vikin, Richard F. Chin, Morten I. Lossius, Dag Hofoss, Ragnhild E. Brandlistuen, Kari M. Aaberg   +5 more
wiley   +1 more source