Skip directly to search Skip directly to A to Z list Skip directly to navigation Skip directly to page options Skip directly to site content

Precision Health Database


Genomics & Health Impact Scan Database|Search|PHGKB

Reproductive and Child Health

Last data update: Sep 24, 2022. (Total: 49607 Documents since 2012)
   dataset      
Filtered By:

Previous    

Records 1 - 30 (of 3187 Records)

Next

Query Trace: all[original query]>>Reviews/Commentaries[Product Type]
Newborn screening research sponsored by the NIH: From diagnostic paradigms to precision therapeutics.
Minear Mollie A et al. American journal of medical genetics. Part C, Seminars in medical genetics 2022
TRECs/KRECs: Beyond the Diagnosis of Severe Combined Immunodeficiency.
Ramos Barbara Cristina et al. Journal of clinical immunology 2022
Application and research progress of machine learning in the diagnosis and treatment of neurodevelopmental disorders in children.
Song Chao et al. Frontiers in psychiatry 2022 13960672
PAM-altering SNP-based allele-specific CRISPR-Cas9 therapeutic strategies for Huntington's disease.
Shin Jun Wan et al. Molecular therapy. Methods & clinical development 2022 26547-561
Congenital hearing loss: a literature review of the genetic etiology in a Mexican population.
Torre-González Carlos de la et al. Boletin medico del Hospital Infantil de Mexico 2022 79(4) 206-214
Comprehensive genetic testing approaches as the basis for personalized management of growth disturbances: current status and perspectives.
van der Kaay Danielle Christine Maria et al. Endocrine connections 2022
Prenatal genetic testing 2: diagnostic tests.
Jenkins Morgan et al. Current opinion in pediatrics 2022
Prenatal genetic testing 1: screening tests.
Jenkins Morgan et al. Current opinion in pediatrics 2022
Rare diseases in Tanzania: a National Call for Action to address policy and urgent needs of individuals with rare diseases.
Kaywanga Frida et al. Orphanet journal of rare diseases 2022 17(1) 343
[Genetic testing in autism spectrum disorder].
Jensen Janni Majgaard et al. Ugeskrift for laeger 2022 184(34)
Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.
Halford Jennifer L et al. Nature communications 2022 13(1) 5106
How to choose a test for prenatal genetic diagnosis: a practical overview.
Sparks Teresa N et al. American journal of obstetrics and gynecology 2022
Prenatal Exome and Genome Sequencing for Fetal Structural Abnormalities.
Vora Neeta L et al. American journal of obstetrics and gynecology 2022
Detection of Structural Variants by NGS: Revealing Missing Alleles in Lysosomal Storage Diseases.
La Cognata Valentina et al. Biomedicines 2022 10(8)
A Mini-Review Regarding the Clinical Outcomes of In Vitro Fertilization (IVF) Following Pre-Implantation Genetic Testing (PGT)-Next Generation Sequencing (NGS) Approach.
Doroftei Bogdan et al. Diagnostics (Basel, Switzerland) 2022 12(8)
The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2.
Lai Abbe et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022
Achondroplasia in Latin America: practical recommendations for the multidisciplinary care of pediatric patients.
Llerena Juan et al. BMC pediatrics 2022 22(1) 492
Applying machine learning methods to psychosocial screening data to improve identification of prenatal depression: Implications for clinical practice and research.
Preis Heidi et al. Archives of women's mental health 2022
Improving child health through Big Data and data science.
Vesoulis Zachary A et al. Pediatric research 2022
How do genetic tests answer questions about neurodevelopmental differences? A sociological take.
Navon Daniel et al. Developmental medicine and child neurology 2022
Therapeutic thoroughfares for adults living with Pompe disease.
Schoser Benedikt et al. Current opinion in neurology 2022
Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact.
et al. American journal of human genetics 2022 109(8) 1353-1365
Genetic causes of central precocious puberty.
Tajima Toshihiro et al. Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 2022 31(3) 101-109
Concerns about the use of polygenic embryo screening for psychiatric and cognitive traits.
Lencz Todd et al. The lancet. Psychiatry 2022
A systematic review on the use of artificial intelligence in gynecologic imaging - Background, state of the art, and future directions.
Shrestha Pallabi et al. Gynecologic oncology 2022
DNA Methylation Episignatures in Neurodevelopmental Disorders Associated with Large Structural Copy Number Variants: Clinical Implications.
Rooney Kathleen et al. International journal of molecular sciences 2022 23(14)
Newborn Screening by Genomic Sequencing: Opportunities and Challenges.
Bick David et al. International journal of neonatal screening 2022 8(3)
The Progress and Future of US Newborn Screening.
Watson Michael S et al. International journal of neonatal screening 2022 8(3)
Making Decisions About Krabbe Disease Newborn Screening.
Kurtzberg Joanne et al. Pediatrics 2022 150(2)
Artificial intelligence-based clinical decision support in pediatrics.
Ramgopal Sriram et al. Pediatric research 2022
TOP