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Precision Health Database


Genomics & Health Impact Scan Database|Search|PHGKB

Last data update: Sep 26, 2022. (Total: 49614 Documents since 2012)
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Query Trace: all[original query]>> Birth Defects/Child Health[Category]
The performance of genome sequencing as a first-tier test for neurodevelopmental disorders.
van der Sanden Bart P G H et al. European journal of human genetics : EJHG 2022
Screening for potential undiagnosed Gaucher disease patients: Utilisation of the Gaucher earlier diagnosis consensus point-scoring system (GED-C PSS) in conjunction with electronic health record data, tissue specimens, and small nucleotide polymorphism (SNP) genotype data available in Finnish biobanks.
Pehrsson Minja et al. Molecular genetics and metabolism reports 2022 33100911
The Vasopressin 1a Receptor Antagonist SRX246 Reduces Aggressive Behavior in Huntington’s Disease
HT Mailbach et al, J Pers Medicine, September 22, 2022
Correspondence on “Cost-effectiveness of exome and genome sequencing for children with rare and undiagnosed conditions”
SD Grosse et al, Genetics in Medicine, September 21, 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
The performance of genome sequencing as a first-tier test for neurodevelopmental disorders
B va der Sanden et al, EJHG, September 15, 2022
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
Integrating rapid exome sequencing into NICU clinical care after a pilot research study.
D'Gama Alissa M et al. NPJ genomic medicine 2022 7(1) 51
Identification of 14 novel susceptibility loci for diaphragmatic hernia development and their biological and clinical implications: results from the UK Biobank.
Campbell Michelle et al. Surgical endoscopy 2022
Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability.
Lindstrand Anna et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022
Using deep learning and electronic health records to detect Noonan syndrome in pediatric patien
Z Yang et al, Genetics in Medicine, September 13, 2022
Treatment of Genetic Diseases With CRISPR Genome Editing
MJ Kan et al, JAMA, September 13, 2022
Clinical Applications of Artificial Intelligence and Machine Learning in Children with Cleft Lip and Palate-A Systematic Review.
Huqh Mohamed Zahoor Ul et al. International journal of environmental research and public health 2022 19(17)
Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil.
Krepischi Ana C V et al. Scientific reports 2022 12(1) 15184
Using machine learning to automatically measure axial vertebral rotation on radiographs in adolescents with idiopathic scoliosis.
Logithasan Veena et al. Medical engineering & physics 2022 107103848
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)
Developmental Pathways and Clinical Outcomes of Early Childhood Psychotic Experiences in Preadolescent Children at Familial High Risk of Schizophrenia or Bipolar Disorder: A Prospective, Longitudinal Cohort Study - The Danish High Risk and Resilience Study, VIA 11.
Gregersen Maja et al. The American journal of psychiatry 2022 179(9) 628-639
Development and validation of diagnostic algorithms for the laboratory diagnosis of porphyrias.
Lefever Stefanie et al. Journal of inherited metabolic disease 2022
Factors associated with pediatric genetic counselors' practices related to bullying screening.
Ginter Jacob A et al. Journal of genetic counseling 2022
Developmental implications of genetic testing for physical indications.
Baribeau Danielle A et al. European journal of human genetics : EJHG 2022
Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.
Halford Jennifer L et al. Nature communications 2022 13(1) 5106
Karyotype patterns, clinical features, and parental ages of three predominant live born autosomal trisomies of Northeast Malaysia.
Ankathil R et al. The Malaysian journal of pathology 2022 44(2) 235-244
Epidemiology, methods of diagnosis, and clinical management of patients with arginase 1 deficiency (ARG1-D): A systematic review.
Bin Sawad Aseel et al. Molecular genetics and metabolism 2022 137(1-2) 153-163
An international study of caregiver-reported burden and quality of life in metachromatic leukodystrophy.
Sevin Caroline et al. Orphanet journal of rare diseases 2022 17(1) 329
Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability
A Lindstrand et al, Genetics in Medicine, September 5, 2022
Integrating rapid exome sequencing into NICU clinical care after a pilot research study
AM D'Gama et al, NPJ Genomic Medicine, September 5, 2022
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