Found: 17
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Assessing clinical education tools for expanded carrier screening.
- Published in:
- Journal of Genetic Counseling, 2021, v. 30, n. 2, p. 606, doi. 10.1002/jgc4.1349
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- Publication type:
- Article
De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Confocal Imaging of the Embryonic Heart: How Deep?
- Published in:
- Microscopy & Microanalysis, 2005, v. 11, n. 3, p. 216, doi. 10.1017/S1431927605050464
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- Publication type:
- Article
Confocal Imaging of the Embryonic Heart: How Deep?
- Published in:
- Microscopy & Microanalysis, 2005, v. 11, n. 3, p. 216, doi. 10.1017/s1431927605050464
- By:
- Publication type:
- Article
Case Study: School-Based Oral Health Screening in San Francisco as an Essential Public Health Service.
- Published in:
- Journal of the California Dental Association, 2017, v. 45, n. 8, p. 405, doi. 10.1080/19424396.2017.12222482
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- Publication type:
- Article
Access to Care for People With Special Needs: Role of Alternative Providers and Practice Settings.
- Published in:
- Journal of the California Dental Association, 2005, v. 33, n. 9, p. 715, doi. 10.1080/19424396.2005.12223917
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- Publication type:
- Article
Comprehensive variant calling from whole‐genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 4, p. 1, doi. 10.1002/mgg3.1888
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- Publication type:
- Article
A rapid gene sequencing panel strategy to facilitate precision neonatal medicine.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1979, doi. 10.1002/ajmg.a.38259
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- Publication type:
- Article
Genetic counselor review of genetic test orders in a reference laboratory reduces unnecessary testing.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1094, doi. 10.1002/ajmg.a.36453
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- Publication type:
- Article
Prenatal diagnosis of 21-hydroxylase deficiency caused by gene conversion and rearrangements: pitfalls and molecular diagnostic solutions.
- Published in:
- Prenatal Diagnosis, 2002, v. 22, n. 13, p. 1171, doi. 10.1002/pd.467
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- Publication type:
- Article
Open-Source Artificial Intelligence System Supports Diagnosis of Mendelian Diseases in Acutely Ill Infants.
- Published in:
- Children, 2023, v. 10, n. 6, p. 991, doi. 10.3390/children10060991
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- Publication type:
- Article
Novel mutation in CCBE 1 as a cause of recurrent hydrops fetalis from Hennekam lymphangiectasia‐lymphedema syndrome‐1.
- Published in:
- Clinical Case Reports, 2018, v. 6, n. 12, p. 2358, doi. 10.1002/ccr3.1804
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- Publication type:
- Article
A virtual community health field project during the COVID‐19 pandemic.
- Published in:
- Journal of Dental Education, 2021, v. 85, p. 958, doi. 10.1002/jdd.12477
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- Publication type:
- Article
Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 7, p. N.PAG, doi. 10.1002/mgg3.796
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- Publication type:
- Article
Multiple endocrine neoplasia type 2 (MEN2) and RET specific modifications of the ACMG/AMP variant classification guidelines and impact on the MEN2 RET database.
- Published in:
- Human Mutation, 2022, v. 43, n. 12, p. 1780, doi. 10.1002/humu.24486
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- Publication type:
- Article
Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes.
- Published in:
- Human Mutation, 2010, v. 31, n. 5, p. 588, doi. 10.1002/humu.21230
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- Publication type:
- Article
A Fusarium verticillioides MAT1-2 Strain near Isogenic to the Sequenced FGSC7600 Strain for Producing Homozygous Multigene Mutants.
- Published in:
- Journal of Fungi, 2024, v. 10, n. 8, p. 592, doi. 10.3390/jof10080592
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- Publication type:
- Article