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American Journal of Medical Genetics. Part A
|
July 16, 2015
Novel KIF7 missense substitutions in two patients presenting with multiple malformations and features of acrocallosal syndrome
Sanjin Tunovic, Kristin W Barañano, James A Barkovich, et al.
Prenatal Diagnosis
|
September 11, 2025
Diagnostic Yield After Postnatal Reanalysis of Prenatal Exome Sequencing Results
Kate Swanson, Ugur Hodoglugil, Teresa N Sparks, et al.
American Journal of Medical Genetics. Part A
|
November 1, 2018
Two patients with FOXF1 mutations with alveolar capillary dysplasia with misalignment of pulmonary veins and other malformations: Two different presentations and outcomes
Aya Abu-El-Haija, Jeff Fineman, Andrew J Connolly, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 18, 2005
Fryns syndrome: report of eight new cases
Anne M Slavotinek, Galen Schauer, Goeff Machin, et al.
American Journal of Medical Genetics. Part A
|
April 2, 2010
A maternally inherited chromosome 18q22.1 deletion in a male with late-presenting diaphragmatic hernia and microphthalmia-evaluation of DSEL as a candidate gene for the diaphragmatic defect
Hatem Zayed, Ryan Chao, Ali Moshrefi, et al.
The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association
|
June 29, 2019
Case Report of Floating-Harbor Syndrome With Bilateral Cleft Lip
Jaemin Ko, Jason H Pomerantz, Hazel Perry, et al.
American Journal of Medical Genetics. Part A
|
February 13, 2013
Clinical report: Two patients with atelosteogenesis type I caused by missense mutations affecting the same FLNB residue
Ben C Li, Jacob Hogue, Meg Eilers, et al.
American Journal of Medical Genetics. Part A
|
September 9, 2020
The expanding spectrum of NFIB-associated phenotypes in a diverse patient population-A report of two new patients
Kathleen Barrus, Shannon Rego, Tiffany Yip, et al.
American Journal of Medical Genetics. Part A
|
August 30, 2019
Developmental and epileptic encephalopathy in two siblings with a novel, homozygous missense variant in SCN1B
Natasha Darras, Thoa K Ha, Shannon Rego, et al.
American Journal of Medical Genetics. Part A
|
July 22, 2004
A female with complete lack of Müllerian fusion, postaxial polydactyly, and tetralogy of fallot: genetic heterogeneity of McKusick-Kaufman syndrome or a unique syndrome?
Anne M Slavotinek, Amalia Dutra, Dzifa Kpodzo, et al.
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Search research articles
Search
Showing results (41-50 of 93) with videos related to
Sort By:
Page
of 10
American Journal of Medical Genetics. Part A
|
July 16, 2015
Novel KIF7 missense substitutions in two patients presenting with multiple malformations and features of acrocallosal syndrome
Sanjin Tunovic, Kristin W Barañano, James A Barkovich, et al.
Prenatal Diagnosis
|
September 11, 2025
Diagnostic Yield After Postnatal Reanalysis of Prenatal Exome Sequencing Results
Kate Swanson, Ugur Hodoglugil, Teresa N Sparks, et al.
American Journal of Medical Genetics. Part A
|
November 1, 2018
Two patients with FOXF1 mutations with alveolar capillary dysplasia with misalignment of pulmonary veins and other malformations: Two different presentations and outcomes
Aya Abu-El-Haija, Jeff Fineman, Andrew J Connolly, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 18, 2005
Fryns syndrome: report of eight new cases
Anne M Slavotinek, Galen Schauer, Goeff Machin, et al.
American Journal of Medical Genetics. Part A
|
April 2, 2010
A maternally inherited chromosome 18q22.1 deletion in a male with late-presenting diaphragmatic hernia and microphthalmia-evaluation of DSEL as a candidate gene for the diaphragmatic defect
Hatem Zayed, Ryan Chao, Ali Moshrefi, et al.
The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association
|
June 29, 2019
Case Report of Floating-Harbor Syndrome With Bilateral Cleft Lip
Jaemin Ko, Jason H Pomerantz, Hazel Perry, et al.
American Journal of Medical Genetics. Part A
|
February 13, 2013
Clinical report: Two patients with atelosteogenesis type I caused by missense mutations affecting the same FLNB residue
Ben C Li, Jacob Hogue, Meg Eilers, et al.
American Journal of Medical Genetics. Part A
|
September 9, 2020
The expanding spectrum of NFIB-associated phenotypes in a diverse patient population-A report of two new patients
Kathleen Barrus, Shannon Rego, Tiffany Yip, et al.
American Journal of Medical Genetics. Part A
|
August 30, 2019
Developmental and epileptic encephalopathy in two siblings with a novel, homozygous missense variant in SCN1B
Natasha Darras, Thoa K Ha, Shannon Rego, et al.
American Journal of Medical Genetics. Part A
|
July 22, 2004
A female with complete lack of Müllerian fusion, postaxial polydactyly, and tetralogy of fallot: genetic heterogeneity of McKusick-Kaufman syndrome or a unique syndrome?
Anne M Slavotinek, Amalia Dutra, Dzifa Kpodzo, et al.
Page
of 10