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American Journal of Obstetrics & Gynecology MFM
|
December 5, 2025
Incremental yield of exome sequencing in fetuses with truly isolated fetal growth restriction: diagnostic insights and clinical impact
Vered Offen Glasner, Adi Botvinik, Adi Mory, et al.
Molecular Vision
|
October 25, 2008
Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform
Shiwani Sharma, Kathryn P Burdon, Alpana Dave, et al.
Prenatal Diagnosis
|
December 7, 2025
Fetal Macrocephaly: Prenatal Findings and Follow-Up in Cases With High Risk for Abnormal Outcome
Hadas Miremberg, Gustavo Malinger, Deborah Kidron, et al.
American Journal of Obstetrics and Gynecology
|
January 4, 2006
Circulating angiogenic proteins in trisomy 13
Yuval Bdolah, Glenn E Palomaki, Yuval Yaron, et al.
Prenatal Diagnosis
|
January 26, 2012
Prenatal Detection of Down Syndrome using Massively Parallel Sequencing (MPS): a rapid response statement from a committee on behalf of the Board of the International Society for Prenatal Diagnosis, 24 October 2011
Peter Benn, Antoni Borrell, Howard Cuckle, et al.
Journal of Neurology
|
April 16, 2024
Genetic diagnosis and detection rates using C9orf72 repeat expansion and a multi-gene panel in amyotrophic lateral sclerosis
Dalit Barel, Daphna Marom, Penina Ponger, et al.
Translational Pediatrics
|
January 24, 2022
Improving renal phenotype and evolving extra-renal features of 17q12 deletion encompassing the <i>HNF1B</i> gene
Roxana Cleper, Adi Reches, Dana Shapira, et al.
European Journal of Human Genetics : EJHG
|
March 12, 2009
Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog
Ashley M Byrnes, Lemuel Racacho, Allison Grimsey, et al.
Human Genomics
|
October 7, 2025
A multicenter study reveals a novel pathogenic splice-site founder variant in OTOF
Zippora Brownstein, Lara Kamal, Shir Mishan-Montefiori, et al.
Prenatal Diagnosis
|
October 5, 2020
International Society for Prenatal Diagnosis Position Statement: cell free (cf)DNA screening for Down syndrome in multiple pregnancies
Glenn E Palomaki, Rossa W K Chiu, Mark D Pertile, et al.
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of 13
Search research articles
Search
Showing results (91-100 of 122) with videos related to
Sort By:
Page
of 13
American Journal of Obstetrics & Gynecology MFM
|
December 5, 2025
Incremental yield of exome sequencing in fetuses with truly isolated fetal growth restriction: diagnostic insights and clinical impact
Vered Offen Glasner, Adi Botvinik, Adi Mory, et al.
Molecular Vision
|
October 25, 2008
Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform
Shiwani Sharma, Kathryn P Burdon, Alpana Dave, et al.
Prenatal Diagnosis
|
December 7, 2025
Fetal Macrocephaly: Prenatal Findings and Follow-Up in Cases With High Risk for Abnormal Outcome
Hadas Miremberg, Gustavo Malinger, Deborah Kidron, et al.
American Journal of Obstetrics and Gynecology
|
January 4, 2006
Circulating angiogenic proteins in trisomy 13
Yuval Bdolah, Glenn E Palomaki, Yuval Yaron, et al.
Prenatal Diagnosis
|
January 26, 2012
Prenatal Detection of Down Syndrome using Massively Parallel Sequencing (MPS): a rapid response statement from a committee on behalf of the Board of the International Society for Prenatal Diagnosis, 24 October 2011
Peter Benn, Antoni Borrell, Howard Cuckle, et al.
Journal of Neurology
|
April 16, 2024
Genetic diagnosis and detection rates using C9orf72 repeat expansion and a multi-gene panel in amyotrophic lateral sclerosis
Dalit Barel, Daphna Marom, Penina Ponger, et al.
Translational Pediatrics
|
January 24, 2022
Improving renal phenotype and evolving extra-renal features of 17q12 deletion encompassing the <i>HNF1B</i> gene
Roxana Cleper, Adi Reches, Dana Shapira, et al.
European Journal of Human Genetics : EJHG
|
March 12, 2009
Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog
Ashley M Byrnes, Lemuel Racacho, Allison Grimsey, et al.
Human Genomics
|
October 7, 2025
A multicenter study reveals a novel pathogenic splice-site founder variant in OTOF
Zippora Brownstein, Lara Kamal, Shir Mishan-Montefiori, et al.
Prenatal Diagnosis
|
October 5, 2020
International Society for Prenatal Diagnosis Position Statement: cell free (cf)DNA screening for Down syndrome in multiple pregnancies
Glenn E Palomaki, Rossa W K Chiu, Mark D Pertile, et al.
Page
of 13