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Journal of Clinical Medicine
|
January 11, 2024
Prenatal Exome Sequencing Analysis in Fetuses with Various Ultrasound Findings
Antoni Borrell, Elena Ordoñez, Montse Pauta, et al.
Prenatal Diagnosis
|
January 4, 2026
Gene List Selection Matters: Missed Diagnoses in Prenatal Exome Sequencing-PanelApp R21 and HPO-Driven Versus OMIM-Based Gene Lists
Victoria Ardiles-Ruesjas, Laia Rodriguez-Revenga, Montse Pauta, et al.
Prenatal Diagnosis
|
August 10, 2004
First-trimester screening for trisomy 21 combining biochemistry and ultrasound at individually optimal gestational ages. An interventional study
Antoni Borrell, Elena Casals, Albert Fortuny, et al.
Human Reproduction (Oxford, England)
|
May 10, 2020
Maternal plasma genome-wide cell-free DNA can detect fetal aneuploidy in early and recurrent pregnancy loss and can be used to direct further workup
Yuval Yaron, Montse Pauta, Celia Badenas, et al.
Prenatal Diagnosis
|
December 15, 2005
Successful selective termination at 17 weeks' gestation in monochorionic monoamniotic twin pregnancy affected by twin-twin transfusion syndrome and discordant for hypoplastic left heart syndrome
Maria del Río, Josep Maria Martínez, Alberto Galindo, et al.
American Journal of Medical Genetics. Part A
|
November 19, 2009
Prenatal diagnosis of two different unbalanced forms of an inherited (Y;12) translocation
Irene Mademont-Soler, Carme Morales, Irene Madrigal, et al.
Prenatal Diagnosis
|
December 13, 2006
False positives in the prenatal ultrasound screening of fetal structural anomalies
M Angels Martinez-Zamora, Antoni Borrell, Virginia Borobio, et al.
Clinical Genetics
|
July 8, 2020
Chromosome microarray analysis should be offered to all invasive prenatal diagnostic testing following a normal rapid aneuploidy test result
Laia Rodriguez-Revenga, Irene Madrigal, Antoni Borrell, et al.
Fetal Diagnosis and Therapy
|
November 30, 2007
A retrospective and theoretical evaluation of rapid methods for detecting chromosome abnormalities and their implications on genetic counseling based on a series of 3868 CVS diagnoses
Anna Soler, Carme Morales, Cèlia Badenas, et al.
Fertility and Sterility
|
May 16, 2009
Reproductive consequences of genome-wide paternal uniparental disomy mosaicism: description of two cases with different mechanisms of origin and pregnancy outcomes
Carme Morales, Anna Soler, Cèlia Badenas, et al.
Page
of 10
Search research articles
Search
Showing results (71-80 of 100) with videos related to
Sort By:
Page
of 10
Journal of Clinical Medicine
|
January 11, 2024
Prenatal Exome Sequencing Analysis in Fetuses with Various Ultrasound Findings
Antoni Borrell, Elena Ordoñez, Montse Pauta, et al.
Prenatal Diagnosis
|
January 4, 2026
Gene List Selection Matters: Missed Diagnoses in Prenatal Exome Sequencing-PanelApp R21 and HPO-Driven Versus OMIM-Based Gene Lists
Victoria Ardiles-Ruesjas, Laia Rodriguez-Revenga, Montse Pauta, et al.
Prenatal Diagnosis
|
August 10, 2004
First-trimester screening for trisomy 21 combining biochemistry and ultrasound at individually optimal gestational ages. An interventional study
Antoni Borrell, Elena Casals, Albert Fortuny, et al.
Human Reproduction (Oxford, England)
|
May 10, 2020
Maternal plasma genome-wide cell-free DNA can detect fetal aneuploidy in early and recurrent pregnancy loss and can be used to direct further workup
Yuval Yaron, Montse Pauta, Celia Badenas, et al.
Prenatal Diagnosis
|
December 15, 2005
Successful selective termination at 17 weeks' gestation in monochorionic monoamniotic twin pregnancy affected by twin-twin transfusion syndrome and discordant for hypoplastic left heart syndrome
Maria del Río, Josep Maria Martínez, Alberto Galindo, et al.
American Journal of Medical Genetics. Part A
|
November 19, 2009
Prenatal diagnosis of two different unbalanced forms of an inherited (Y;12) translocation
Irene Mademont-Soler, Carme Morales, Irene Madrigal, et al.
Prenatal Diagnosis
|
December 13, 2006
False positives in the prenatal ultrasound screening of fetal structural anomalies
M Angels Martinez-Zamora, Antoni Borrell, Virginia Borobio, et al.
Clinical Genetics
|
July 8, 2020
Chromosome microarray analysis should be offered to all invasive prenatal diagnostic testing following a normal rapid aneuploidy test result
Laia Rodriguez-Revenga, Irene Madrigal, Antoni Borrell, et al.
Fetal Diagnosis and Therapy
|
November 30, 2007
A retrospective and theoretical evaluation of rapid methods for detecting chromosome abnormalities and their implications on genetic counseling based on a series of 3868 CVS diagnoses
Anna Soler, Carme Morales, Cèlia Badenas, et al.
Fertility and Sterility
|
May 16, 2009
Reproductive consequences of genome-wide paternal uniparental disomy mosaicism: description of two cases with different mechanisms of origin and pregnancy outcomes
Carme Morales, Anna Soler, Cèlia Badenas, et al.
Page
of 10