Search research articles
Contact Us
Filters
Showing results (1-10 of 49) with videos related to
Page
of 5
Sort By:
Clinical Genetics
|
June 11, 2024
Re-analysis of whole genome sequencing ends a diagnostic odyssey: Case report of an RNU4-2 related neurodevelopmental disorder
Rachel Schot, Federico Ferraro, Geert Geeven, et al.
Prenatal Diagnosis
|
May 24, 2025
Is It Feasible to Screen for Fetal De Novo or Paternally Inherited Pathogenic Single Nucleotide Variants in Maternal Plasma Cell-Free DNA? A Systematic Literature Review
Kristína Valovičová, Karin E M Diderich, Wichor M Bramer, et al.
American Journal of Medical Genetics. Part A
|
March 7, 2017
Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome
Sofie Symoens, Wouter Steyaert, Lynn Demuynck, et al.
Molecular Cytogenetics
|
January 10, 2021
Patient-friendly integrated first trimester screening by NIPT and fetal anomaly scan
Malgorzata Ilona Srebniak, Maarten F C M Knapen, Marieke Joosten, et al.
The Application of Clinical Genetics
|
May 22, 2023
Challenges and Pragmatic Solutions in Pre-Test and Post-Test Genetic Counseling for Prenatal Exome Sequencing
Karin E M Diderich, Jasmijn E Klapwijk, Vyne van der Schoot, et al.
Journal of Genetic Counseling
|
July 9, 2020
Parental experiences of uncertainty following an abnormal fetal anomaly scan: Insights using Han's taxonomy of uncertainty
Jennifer Hammond, Jasmijn E Klapwijk, Melissa Hill, et al.
Prenatal Diagnosis
|
April 22, 2026
Impact of Maternal Body Mass Index (BMI) on the Performance of Non-Invasive Prenatal Testing (NIPT)
Kristina Valovicova, Marike Polak, Sophie Ottema, et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology
|
January 13, 2024
Prenatal counseling of an isolated fetal small head circumference during the second trimester expert ultrasound examination
Sofie C Husen, Eline F Visser, Malgorzata I Srebniak, et al.
Plos One
|
May 14, 2026
The impact of uncertainty on disclosure of prenatal exome sequencing results: A vignette study among medical students
Jasmijn E Klapwijk, Vyne Van der Schoot, Marike G Polak, et al.
Prenatal Diagnosis
|
June 11, 2024
Exome sequencing in fetuses with congenital diaphragmatic hernia in a nationwide cohort
Katinka Weller, Dineke Westra, Nina C J Peters, et al.
Page
of 5
Search research articles
Search
Showing results (1-10 of 49) with videos related to
Sort By:
Page
of 5
Clinical Genetics
|
June 11, 2024
Re-analysis of whole genome sequencing ends a diagnostic odyssey: Case report of an RNU4-2 related neurodevelopmental disorder
Rachel Schot, Federico Ferraro, Geert Geeven, et al.
Prenatal Diagnosis
|
May 24, 2025
Is It Feasible to Screen for Fetal De Novo or Paternally Inherited Pathogenic Single Nucleotide Variants in Maternal Plasma Cell-Free DNA? A Systematic Literature Review
Kristína Valovičová, Karin E M Diderich, Wichor M Bramer, et al.
American Journal of Medical Genetics. Part A
|
March 7, 2017
Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome
Sofie Symoens, Wouter Steyaert, Lynn Demuynck, et al.
Molecular Cytogenetics
|
January 10, 2021
Patient-friendly integrated first trimester screening by NIPT and fetal anomaly scan
Malgorzata Ilona Srebniak, Maarten F C M Knapen, Marieke Joosten, et al.
The Application of Clinical Genetics
|
May 22, 2023
Challenges and Pragmatic Solutions in Pre-Test and Post-Test Genetic Counseling for Prenatal Exome Sequencing
Karin E M Diderich, Jasmijn E Klapwijk, Vyne van der Schoot, et al.
Journal of Genetic Counseling
|
July 9, 2020
Parental experiences of uncertainty following an abnormal fetal anomaly scan: Insights using Han's taxonomy of uncertainty
Jennifer Hammond, Jasmijn E Klapwijk, Melissa Hill, et al.
Prenatal Diagnosis
|
April 22, 2026
Impact of Maternal Body Mass Index (BMI) on the Performance of Non-Invasive Prenatal Testing (NIPT)
Kristina Valovicova, Marike Polak, Sophie Ottema, et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology
|
January 13, 2024
Prenatal counseling of an isolated fetal small head circumference during the second trimester expert ultrasound examination
Sofie C Husen, Eline F Visser, Malgorzata I Srebniak, et al.
Plos One
|
May 14, 2026
The impact of uncertainty on disclosure of prenatal exome sequencing results: A vignette study among medical students
Jasmijn E Klapwijk, Vyne Van der Schoot, Marike G Polak, et al.
Prenatal Diagnosis
|
June 11, 2024
Exome sequencing in fetuses with congenital diaphragmatic hernia in a nationwide cohort
Katinka Weller, Dineke Westra, Nina C J Peters, et al.
Page
of 5