What's New
Last Posted: Dec 05, 2019
- Dilemma of Reporting Incidental Findings in Newborn Screening Programs for SCID: Parents' Perspective on Ataxia Telangiectasia.
Blom Maartje et al. Frontiers in immunology 2019 102438 - Identification of Novel Microsatellite Markers Flanking the SMN1 and SMN2 Duplicated Region and Inclusion Into a Single-Tube Tridecaplex Panel for Haplotype-Based Preimplantation Genetic Testing of Spinal Muscular Atrophy.
Zhao Mingjue et al. Frontiers in genetics 2019 101105 - Impact of newborn screening on outcomes and social inequalities in cystic fibrosis: a UK CF registry-based study.
Schlüter Daniela K et al. Thorax 2019 Nov - International perspectives on the implementation of reproductive carrier screening.
Delatycki Martin B et al. Prenatal diagnosis 2019 Nov - Intratumor heterogeneity and homologous recombination deficiency of high-grade serous ovarian cancer are associated with prognosis and molecular subtype and change in treatment course.
Takaya Hisamitsu et al. Gynecologic oncology 2019 Nov - Low rates of cascade genetic testing among families with hereditary gynecologic cancer: An opportunity to improve cancer prevention.
Griffin Natalie E et al. Gynecologic oncology 2019 Nov - Lynch syndrome-related non-endometrioid endometrial cancer: analysis of outcomes.
Bogani Giorgio et al. International journal of gynecological cancer : official journal of the International Gynecological Cancer Society 2019 Nov - Molecular characterization of lung adenocarcinoma from Korean patients using next generation sequencing.
Chun You Jin et al. PloS one 2019 14(11) e0224379 - X-linked Adrenoleukodystrophy: Pathology, Pathophysiology, Diagnostic Testing, Newborn Screening, and Therapies.
Turk Bela R et al. International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience 2019 Nov - [Promoting regulated gene diagnosis for retinoblastoma in clinical work].
Liang J H et al. [Zhonghua yan ke za zhi] Chinese journal of ophthalmology 2019 Nov 55(11) 806-810 - An update on: molecular genetics of high-risk chronic lymphocytic leukemia.
Moia Riccardo et al. Expert review of hematology 2019 Nov 1-8 - Enabling Precision Medicine for Rare Head and Neck Tumors: The Example of BRAF/MEK Targeting in Patients With Metastatic Ameloblastoma.
Brunet Maxime et al. Frontiers in oncology 2019 91204 - Genetic and clinical characterization of BRCA-associated hereditary breast and ovarian cancer in Navarra (Spain).
Ruiz de Sabando Ainara et al. BMC cancer 2019 Nov 19(1) 1145 - Hereditary Cancer Syndromes and Risk Assessment: ACOG COMMITTEE OPINION SUMMARY, Number 793.
et al. Obstetrics and gynecology 2019 Dec 134(6) 1366-1367 - Identification of Prognostic Biomarkers in the Urinary Peptidome of the Small Renal Mass.
Di Meo Ashley et al. The American journal of pathology 2019 Dec 189(12) 2366-2376 - Machine learning-based multiparametric MRI radiomics for predicting the aggressiveness of papillary thyroid carcinoma.
Wang Hao et al. European journal of radiology 2019 Nov 122108755 - Prevalence and oncologic outcomes of BRCA1/2 mutation and variant of unknown significance in epithelial ovarian carcinoma patients in Korea.
Seo Jun Hyeong et al. Obstetrics & gynecology science 2019 Nov 62(6) 411-419 - Retesting of women who are negative for a BRCA1 and BRCA2 mutation using a 20-gene panel.
Lerner-Ellis Jordan et al. Journal of medical genetics 2019 Nov - Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency.
Bianchi Paola et al. American journal of hematology 2019 94(1) 149-161 - Circulating Cell-Free miR-375 as Surrogate Marker of Tumor Burden in Merkel Cell Carcinoma.
Fan Kaiji et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2018 24(23) 5873-5882
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