Results 231 to 240 of about 124,374 (336)

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

Prognostic significance of caspase 8 associated protein 2 (CASP8AP2) in childhood b cell acute lymphoblastic Leukemia. [PDF]

Discov Oncol
Arafah O, Ashraf M, Abd Elsalam AM, Elfishawi S, Hammad M.   +4 more
europepmc   +1 more source

Comparative Karyotyping of Five Marine Species of Genus Cypraea (Mesogastropoda: Prosobranchiata).

, 1999
Abdel-Basset M. Ebied, Hemely Hassan
openalex   +2 more sources

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

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

Turner Syndrome With 45,X/46,XX Mosaicism and a Derivative X Chromosome (Xqter → Xq13?::Xp11.4 → Xqter): A Case Report. [PDF]

Clin Case Rep
Jiang W, Ji T, Wu Q, Xu Z, Xia X.
europepmc   +1 more source

SNP array-based karyotyping: differences and similarities between aplastic anemia and hypocellular myelodysplastic syndromes.

Blood, 2011
M. Afable, M. Wlodarski, H. Makishima, Mohammed Shaik, M. Sekeres, R. Tiu, M. Kalaycio, C. O'keefe, J. Maciejewski   +8 more
semanticscholar   +1 more source

Improvement in survival of patients with higher risk but not lower risk myelodysplastic syndromes over 20 years: A retrospective study from Nagasaki, Japan

British Journal of Haematology, EarlyView.
Takafumi Furumoto, Koji Ando, Eo Toriyama, Tomoko Hata, Hikaru Sakamoto, Masahiko Chiwata, Hideaki Kitanosono, Jun Nakashima, Takeharu Kato, Masataka Taguchi, Makiko Horai, Hidehiro Itonaga, Shinya Sato, Yasushi Sawayama, Daisuke Imanishi, Yoshitaka Imaizumi, Tatsuro Jo, Shinichiro Yoshida, Yukiyoshi Moriuchi, Yasushi Miyazaki   +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

The Diagnostic Utility of Prenatal Microarray in High-Risk Pregnancies: A Single-Center Experience in Enhancing Reproductive Care and Risk Stratification. [PDF]

Diagnostics (Basel)
Bakır A, Alay MT, Tekbaş UC, Sucu S, Kalay İ, Saat H.   +5 more
europepmc   +1 more source