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Precision Health Database


Genomics & Health Impact Scan Database|Search|PHGKB

Reproductive and Child Health

Last data update: Oct 16, 2021. (Total: 42868 Documents since 2012)
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Query Trace: all[original query]>>Reviews/Commentaries[Product Type]
Genetics of diaphragmatic hernia.
Schreiner Yannick et al. European journal of human genetics : EJHG 2021
Risk-Reducing Bilateral Salpingo-Oophorectomy for Ovarian Cancer: A Review and Clinical Guide for Hereditary Predisposition Genes.
Liu Ying L et al. JCO oncology practice 2021 OP2100382
Multidisciplinary interaction and MCD gene discovery. The perspective of the clinical geneticist.
Mancini Grazia M S et al. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2021 3527-34
The current state of prenatal detection of genetic conditions in congenital heart defects.
Findley Tina O et al. Translational pediatrics 2021 10(8) 2157-2170
The Dietary Approach to the Treatment of the Rare Genetic Tubulopathies Gitelman's and Bartter's Syndromes.
Francini Francesco et al. Nutrients 2021 13(9)
Evaluation of newborn screening for severe combined immunodeficiency (SCID).
Nightingale Rebecca et al. The British journal of general practice : the journal of the Royal College of General Practitioners 2021 71(711) 456-457
Non-invasive prenatal testing: clinical utility and ethical concerns about recent advances.
Liley Helen G et al. The Medical journal of Australia 2021
The Role of De Novo Variants in Patients with Congenital Diaphragmatic Hernia.
Bendixen Charlotte et al. Genes 2021 12(9)
Editorial: Newborn Screening for Inborn Errors of Metabolism: Is It Time for a Globalized Perspective Based on Genetic Screening?
Elmonem Mohamed A et al. Frontiers in genetics 2021 12758142
Non-invasive prenatal testing: clinical utility and ethical concerns about recent advances.
McLean Alison et al. The Medical journal of Australia 2021
Clinical Trial Design for Disease-Modifying Therapies for Genetic Epilepsies.
Brock Dylan C et al. Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics 2021
The ethical landscape(s) of non-invasive prenatal testing in England, France and Germany: findings from a comparative literature review
A Perrot et al, EJHG, October 4, 2021
Metabolomics-Based Screening of Inborn Errors of Metabolism: Enhancing Clinical Application with a Robust Computational Pipeline.
Hoegen Brechtje et al. Metabolites 2021 11(9)
High-profile autism genetics project paused amid backlash Study aimed at collecting DNA from 10,000 people with autism and their families has drawn criticism for failing to consult the autism community.
K Sandarson, Nature, September 27, 2021
BABY STEPS Sequencing every newborn’s genome to detect diseases faces ethical and practical obstacles, but the United Kingdom is pushing ahead with a major test
J Kaiser, Science, September 23,2021
Juvenile-onset Open-angle Glaucoma - A Clinical and Genetic Update.
Selvan Harathy et al. Survey of ophthalmology 2021
Adapting the ACMG/AMP variant classification framework: a perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel.
Kountouris Petros et al. Human mutation 2021
Tuberous Sclerosis: Current Update.
Wang Mindy X et al. Radiographics : a review publication of the Radiological Society of North America, Inc 2021 210103
Artificial Intelligence in the Assessment of Female Reproductive Function Using Ultrasound: A Review.
Chen Zhiyi et al. Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine 2021
Gene therapy: perspectives from young adults with Leber's congenital amaurosis.
Napier Melanie P et al. Eye (London, England) 2021
Universal newborn hearing screening in the Italian Region of Sicily in 2018.
Ferlito Salvatore et al. Acta otorhinolaryngologica Italica : organo ufficiale della Societa italiana di otorinolaringologia e chirurgia cervico-facciale 2021 41(4) 356-363
Absorbing it all: A meta-ethnography of parents' unfolding experiences of newborn screening.
White Ashley L et al. Social science & medicine (1982) 2021 287114367
Perinatal health predictors using artificial intelligence: A review.
Ramakrishnan Rema et al. Women's health (London, England) 2021 1717455065211046132
Addressing the Needs of Patients with Ultra-Rare Mutations One Patient at a Time: The n-Lorem Approach.
Crooke Stanley T et al. Nucleic acid therapeutics 2021
Sickle cell disease in sub-Saharan Africa: transferable strategies for prevention and care.
Esoh Kevin et al. The Lancet. Haematology 2021
[Current developments in hemostatic treatment for patients with hemophilia].
Nogami Keiji et al. [Rinsho ketsueki] The Japanese journal of clinical hematology 2021 62(8) 1213-1221
[Treating inherited bone marrow failure syndromes and primary immunodeficiency diseases].
Ishimura Masataka et al. [Rinsho ketsueki] The Japanese journal of clinical hematology 2021 62(8) 1327-1333
Challenging the dogma of the healthy heterozygote: Implications for newborn screening policies and practices.
Farrell Philip M et al. Molecular genetics and metabolism 2021
Reproductive issues in carriers of germline pathogenic variants in the BRCA1/2 genes: an expert meeting.
Buonomo Barbara et al. BMC medicine 2021 19(1) 205
Metabolomics can provide new insights into perinatal nutrition.
Pintus Roberta et al. Acta paediatrica (Oslo, Norway : 1992) 2021
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