Search Results - "Alamillo, Christina L" :: K.UTB vyhledávací portál

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Diagnostic exome sequencing for patients with a family history of consanguinity: over 38% of positive results are not autosomal recessive pattern

by Powis, Zöe, Farwell, Kelly D, Alamillo, Christina L, Tang, Sha
Published in Journal of human genetics (01.02.2016)

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Nearly a third of abnormalities found after first-trimester screening are different than expected:10-year experience from a single center

by Alamillo, Christina M. L., Krantz, David, Evans, Mark, Fiddler, Morris, Pergament, Eugene
Published in Prenatal diagnosis (01.03.2013)

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Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies

by Alamillo, Christina L., Powis, Zöe, Farwell, Kelly, Shahmirzadi, Layla, Weltmer, Elaine C., Turocy, John, Lowe, Thomas, Kobelka, Christine, Chen, Emily, Basel, Donald, Ashkinadze, Elena, D'Augelli, Lisa, Chao, Elizabeth, Tang, Sha
Published in Prenatal diagnosis (01.11.2015)

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Postmortem Diagnostic Exome Sequencing Identifies a De Novo TUBB3 Alteration in a Newborn With Prenatally Diagnosed Hydrocephalus and Suspected Walker-Warburg Syndrome

by Powis, Zöe, Chamberlin, Adam C, Alamillo, Christina L, Ceulemans, Sophia, Bird, Lynne M, Tang, Sha
Published in Pediatric and developmental pathology (01.05.2018)

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Post Mortem Diagnostic Exome Sequencing Identifies a de novo TUBB3 Alteration in a Newborn with Prenatally Diagnosed Hydrocephalus and Suspected Walker-Warburg Syndrome

by Powis, Zoe, Chamberlin, Adam C, Alamillo, Christina L, Ceulemans, Sophia, Bird, Lynne M, Tang, Sha
Published in Pediatric and developmental pathology (04.08.2016)

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Increased nuchal translucency in the presence of normal chromosomes: what's next?

by Alamillo, Christina M L, Fiddler, Morris, Pergament, Eugene
Published in Current opinion in obstetrics & gynecology (01.03.2012)

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Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies: Exome sequencing identified alterations in half of prenatal cases

by Alamillo, Christina L., Powis, Zöe, Farwell, Kelly, Shahmirzadi, Layla, Weltmer, Elaine C., Turocy, John, Lowe, Thomas, Kobelka, Christine, Chen, Emily, Basel, Donald, Ashkinadze, Elena, D'Augelli, Lisa, Chao, Elizabeth, Tang, Sha
Published in Prenatal diagnosis (01.11.2015)

Get full text

Journal Article

Diagnostic exome sequencing for patients with a family history of consanguinity: over 38% of positive results are not autosomal recessive pattern

Nearly a third of abnormalities found after first-trimester screening are different than expected:10-year experience from a single center

Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies

Postmortem Diagnostic Exome Sequencing Identifies a De Novo TUBB3 Alteration in a Newborn With Prenatally Diagnosed Hydrocephalus and Suspected Walker-Warburg Syndrome

Post Mortem Diagnostic Exome Sequencing Identifies a de novo TUBB3 Alteration in a Newborn with Prenatally Diagnosed Hydrocephalus and Suspected Walker-Warburg Syndrome

Increased nuchal translucency in the presence of normal chromosomes: what's next?

Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies: Exome sequencing identified alterations in half of prenatal cases

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