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DNA Sequencing in Newborn Screening: Opportunities, Challenges, and Future Directions.
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- Clinical Chemistry, 2025, v. 71, n. 1, p. 77, doi. 10.1093/clinchem/hvae180
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- Article
Exploring the Immediate Impact of APOE ε4ε4 Genotype Disclosure among Latinos.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2024, v. 20, p. 1, doi. 10.1002/alz.086185
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- Article
Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 8, p. 1, doi. 10.1002/mgg3.1756
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- Article
Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience.
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- Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 6, p. 898, doi. 10.1002/mgg3.453
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- Article
Cutaneous Squamous Cell Carcinoma in Transketolase Deficiency.
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- JAMA Otolaryngology-Head & Neck Surgery, 2024, v. 150, n. 11, p. 1038, doi. 10.1001/jamaoto.2024.2489
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- Article
Caregiver‐reported dental manifestations in individuals with genetic neurodevelopmental disorders.
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- International Journal of Paediatric Dentistry, 2024, v. 34, n. 2, p. 145, doi. 10.1111/ipd.13116
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- Article
MVP predicts the pathogenicity of missense variants by deep learning.
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- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-020-20847-0
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- Article
Common germline-somatic variant interactions in advanced urothelial cancer.
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- Nature Communications, 2020, v. 11, n. 1, p. N.PAG, doi. 10.1038/s41467-020-19971-8
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- Article
Genetics dictating therapeutic decisions in pediatric pulmonary hypertension? A case report suggesting we are getting closer.
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- Pulmonary Circulation, 2022, v. 12, n. 1, p. 1, doi. 10.1002/pul2.12033
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- Article
United States Pulmonary Hypertension Scientific Registry (USPHSR): rationale, design, and clinical implications.
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- Pulmonary Circulation, 2019, v. 9, n. 2, p. N.PAG, doi. 10.1177/2045894019851696
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- Article
Pulmonary arterial hypertension: Specialists' knowledge, practices, and attitudes of genetic counseling and genetic testing in the USA.
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- Pulmonary Circulation, 2017, v. 7, n. 2, p. 372, doi. 10.1177/2045893217700156
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- Article
Consistency of parent-report SLC6A1 data in Simons Searchlight with Provider-Based Publications.
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- Journal of Neurodevelopmental Disorders, 2022, v. 14, p. 1, doi. 10.1186/s11689-022-09449-7
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- Article
Consistency of parent-report SLC6A1 data in Simons Searchlight with Provider-Based Publications.
- Published in:
- Journal of Neurodevelopmental Disorders, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s11689-022-09449-7
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- Publication type:
- Article
Diverse Parental Perspectives of the Social and Educational Needs for Expanding Newborn Screening through Genomic Sequencing.
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- Public Health Genomics, 2022, v. 25, n. 5/6, p. 185, doi. 10.1159/000526382
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- Article
Understanding Factors Associated with Uptake of BRCA1/2 Genetic Testing among Orthodox Jewish Women in the USA Using a Mixed-Methods Approach.
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- Public Health Genomics, 2018, v. 21, n. 5/6, p. 186, doi. 10.1159/000499852
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- Article
Environmental carcinogens disproportionally mutate genes implicated in neurodevelopmental disorders.
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- Frontiers in Neuroscience, 2023, p. 1, doi. 10.3389/fnins.2023.1106573
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- Article
Depression and genetic causal attribution of epilepsy in multiplex epilepsy families.
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- Epilepsia (Series 4), 2016, v. 57, n. 10, p. 1643, doi. 10.1111/epi.13500
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- Article
Parents' interest in genetic testing of their offspring in multiplex epilepsy families.
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- Epilepsia (Series 4), 2016, v. 57, n. 2, p. 279, doi. 10.1111/epi.13287
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- Article
Genetic causal attribution of epilepsy and its implications for felt stigma.
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- Epilepsia (Series 4), 2015, v. 56, n. 10, p. 1542, doi. 10.1111/epi.13113
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- Article
Genetic testing preferences in families containing multiple individuals with epilepsy.
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- Epilepsia (Series 4), 2014, v. 55, n. 11, p. 1705, doi. 10.1111/epi.12810
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- Publication type:
- Article
Functional Consequences of the SCN5A-p.Y1977N Mutation within the PY Ubiquitylation Motif: Discrepancy between HEK293 Cells and Transgenic Mice.
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- International Journal of Molecular Sciences, 2019, v. 20, n. 20, p. 5033, doi. 10.3390/ijms20205033
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- Article
A definition of gentle ventilation in congenital diaphragmatic hernia: a survey of neonatologists and pediatric surgeons.
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- Journal of Perinatal Medicine, 2017, v. 45, n. 9, p. 1031, doi. 10.1515/jpm-2016-0271
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- Article
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.
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- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1333, doi. 10.1002/jimd.12290
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- Article
Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients.
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- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 1, p. 147, doi. 10.1002/jimd.12036
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- Publication type:
- Article
Analysis of 30 Genes (355 SNPS) Related to Energy Homeostasis for Association with Adiposity in European-American and Yup’ik Eskimo Populations.
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- Human Heredity, 2009, v. 67, n. 3, p. 193, doi. 10.1159/000181158
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- Article
Phenotype driven molecular genetic test recommendation for diagnosing pediatric rare disorders.
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- NPJ Digital Medicine, 2024, v. 7, n. 1, p. 1, doi. 10.1038/s41746-024-01331-1
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- Article
Biallelic variants in AGMO with diminished enzyme activity are associated with a neurodevelopmental disorder.
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- Human Genetics, 2019, v. 138, n. 11/12, p. 1259, doi. 10.1007/s00439-019-02065-x
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- Article
Robust identification of mosaic variants in congenital heart disease.
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- Human Genetics, 2018, v. 137, n. 2, p. 183, doi. 10.1007/s00439-018-1871-6
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- Article
The FTO Gene and Measured Food Intake in 5- to 10-Year-Old Children Without Obesity.
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- 2019
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- Publication type:
- journal article
Eating in the absence of hunger but not loss of control behaviors are associated with 16p11.2 deletions.
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- Obesity (19307381), 2014, v. 22, n. 12, p. 2625, doi. 10.1002/oby.20892
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- Article
Whole-Exome sequencing identifies novel LEPR mutations in individuals with severe early onset obesity.
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- Obesity (19307381), 2014, v. 22, n. 2, p. 576, doi. 10.1002/oby.20492
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- Article
Weight loss after bariatric surgery in morbidly obese adolescents with MC4R mutations.
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- Obesity (19307381), 2014, v. 22, n. 1, p. 225, doi. 10.1002/oby.20511
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- Article
Common Variants in the CD36 Gene Are Associated With Oral Fat Perception, Fat Preferences, and Obesity in African Americans.
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- Obesity (19307381), 2012, v. 20, n. 5, p. 1066, doi. 10.1038/oby.2011.374
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- Article
Sex differences in the effects of inherited bitter thiourea sensitivity on body weight in 4-6-year-old children.
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- 2010
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- Publication type:
- journal article
Sex Differences in the Effects of Inherited Bitter Thiourea Sensitivity on Body Weight in 4–6-Year-Old Children.
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- Obesity (19307381), 2010, v. 18, n. 6, p. 1194, doi. 10.1038/oby.2009.306
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- Article
Functional Consequences of the Human Leptin Receptor (LEPR) Q223R Transversion.
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- Obesity (19307381), 2009, v. 17, n. 1, p. 126, doi. 10.1038/oby.2008.489
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- Article
Considerations Regarding the Genetics of Obesity.
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- Obesity (19307381), 2008, v. 16, p. S33, doi. 10.1038/oby.2008.514
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- Article
Artificial intelligence and the impact on medical genetics.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2023, v. 193, n. 3, p. 1, doi. 10.1002/ajmg.c.32060
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- Article
Newborn screening for Duchenne muscular dystrophy‐early detection and diagnostic algorithm for female carriers of Duchenne muscular dystrophy.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 2, p. 197, doi. 10.1002/ajmg.c.32000
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- Article
Newborn screening for neurodevelopmental diseases: Are we there yet?
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 2, p. 222, doi. 10.1002/ajmg.c.31988
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- Publication type:
- Article
The genetics of isolated congenital heart disease.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 1, p. 97, doi. 10.1002/ajmg.c.31763
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- Publication type:
- Article
Language characterization in 16p11.2 deletion and duplication syndromes.
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- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2020, v. 183, n. 6, p. 380, doi. 10.1002/ajmg.b.32809
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- Article
Developmental trajectories for young children with 16p11.2 copy number variation.
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- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2017, v. 174, n. 4, p. 367, doi. 10.1002/ajmg.b.32525
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- Publication type:
- Article
Pulmoner arteriyel hipertansiyonun genetik ve genomikleri.
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- Archives of the Turkish Society of Cardiology / Türk Kardiyoloji Derneği Arşivi, 2014, v. 42, n. Supp 1, p. 143
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- Article
Genetic Variant Reinterpretation: Economic and Population Health Management Challenges.
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- Population Health Management, 2021, v. 24, n. 3, p. 310, doi. 10.1089/pop.2020.0115
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- Article
Frequency and characterization of mutations in genes in a large cohort of patients referred to MODY registry.
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- Journal of Pediatric Endocrinology & Metabolism, 2021, v. 34, n. 5, p. 633, doi. 10.1515/jpem-2020-0501
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- Publication type:
- Article
Human iPSC-Derived Neuronal Cells From CTBP1 -Mutated Patients Reveal Altered Expression of Neurodevelopmental Gene Networks.
- Published in:
- Frontiers in Neuroscience, 2020, p. N.PAG, doi. 10.3389/fnins.2020.562292
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- Article
REPLY.
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- Muscle & Nerve, 2014, v. 50, p. 458, doi. 10.1002/mus.24317
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- Article
Reply.
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- Muscle & Nerve, 2014, v. 50, n. 3, p. 458, doi. 10.1002/mus.24317
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- Article
The motor neuron response to SMN1 deficiency in spinal muscular atrophy.
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- Muscle & Nerve, 2014, v. 49, n. 5, p. 636, doi. 10.1002/mus.23967
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- Publication type:
- Article