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Sandra Darilek

Showing results (11-20 of 19) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 16, 2022
Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)Jeffrey S Dungan, Susan Klugman, Sandra Darilek, et al.
American Journal of Medical Genetics. Part A|October 17, 2006
DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controlsHsiao-Yuan Tang, Ping Fang, Patricia A Ward, et al.
BMJ Open|May 21, 2015
DNA sequence analysis and genotype-phenotype assessment in 71 patients with syndromic hearing loss or auditory neuropathyHsiao-Yuan Tang, Ping Fang, Jerry W Lin, et al.
American Journal of Medical Genetics. Part A|January 18, 2019
Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrumEbba Alkhunaizi, Shirley Shuster, Patrick Shannon, et al.
Journal of Women'S Health (2002)|April 8, 2017
Offering Prenatal Screening in the Age of Genomic Medicine: A Practical GuideMegan Allyse, Umut Aypar, Natasha Bonhomme, et al.
HGG Advances|October 18, 2025
Two commonly reported incidental variants in OTC are associated with late-onset diseaseSteven H Lang, Russell S Lo, Gareth A Cromie, et al.
Prenatal Diagnosis|November 18, 2008
Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 casesIgnatia B Van den Veyver, Ankita Patel, Chad A Shaw, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 17, 2006
Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridizationTrilochan Sahoo, Sau Wai Cheung, Patricia Ward, et al.
American Journal of Medical Genetics. Part A|December 12, 2019
The sixth international RASopathies symposium: Precision medicine-From promise to practiceKaren W Gripp, Lisa Schill, Lisa Schoyer, et al.
Pageof 2

Showing results (11-20 of 19) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 19 results.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 16, 2022
Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)Jeffrey S Dungan, Susan Klugman, Sandra Darilek, et al.
American Journal of Medical Genetics. Part A|October 17, 2006
DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controlsHsiao-Yuan Tang, Ping Fang, Patricia A Ward, et al.
BMJ Open|May 21, 2015
DNA sequence analysis and genotype-phenotype assessment in 71 patients with syndromic hearing loss or auditory neuropathyHsiao-Yuan Tang, Ping Fang, Jerry W Lin, et al.
American Journal of Medical Genetics. Part A|January 18, 2019
Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrumEbba Alkhunaizi, Shirley Shuster, Patrick Shannon, et al.
Journal of Women'S Health (2002)|April 8, 2017
Offering Prenatal Screening in the Age of Genomic Medicine: A Practical GuideMegan Allyse, Umut Aypar, Natasha Bonhomme, et al.
HGG Advances|October 18, 2025
Two commonly reported incidental variants in OTC are associated with late-onset diseaseSteven H Lang, Russell S Lo, Gareth A Cromie, et al.
Prenatal Diagnosis|November 18, 2008
Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 casesIgnatia B Van den Veyver, Ankita Patel, Chad A Shaw, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 17, 2006
Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridizationTrilochan Sahoo, Sau Wai Cheung, Patricia Ward, et al.
American Journal of Medical Genetics. Part A|December 12, 2019
The sixth international RASopathies symposium: Precision medicine-From promise to practiceKaren W Gripp, Lisa Schill, Lisa Schoyer, et al.
Pageof 2