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American Journal of Medical Genetics. Part A
|
May 3, 2021
Hypoxia: A teratogen underlying a range of congenital disruptions, dysplasias, and malformations
Aaron P Adam, Kurlen S E Payton, Pedro A Sanchez-Lara, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
March 18, 2025
Evaluation of Targeted Therapies Currently Available for Congenital Genetic Conditions Indexed in GeneReviews
Nathan B Adam, Anne R Amemiya, Stephanie E Wallace, et al.
American Journal of Medical Genetics. Part A
|
August 5, 2011
The microcephaly-capillary malformation syndrome
Ghayda M Mirzaa, Alex R Paciorkowski, Christopher D Smyser, et al.
American Journal of Medical Genetics. Part A
|
January 18, 2018
Bi-allelic mutations of CCDC88C are a rare cause of severe congenital hydrocephalus
Gaia Ruggeri, Andrew E Timms, Chi Cheng, et al.
Cold Spring Harbor Molecular Case Studies
|
April 28, 2022
The utility of cerebrospinal fluid-derived cell-free DNA in molecular diagnostics for the <i>PIK3CA</i>-related megalencephaly-capillary malformation (MCAP) syndrome: a case report
Wei-Liang Chen, Emily Pao, James Owens, et al.
Human Mutation
|
November 24, 2015
Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of "PIK3CA-Related Overgrowth Spectrum"
Nataliya Di Donato, Andreas Rump, Ghayda M Mirzaa, et al.
American Journal of Medical Genetics. Part A
|
December 5, 2018
Expanding clinical phenotype in CACNA1C related disorders: From neonatal onset severe epileptic encephalopathy to late-onset epilepsy
Xiuhua Bozarth, Jennifer N Dines, Qian Cong, et al.
Pediatrics
|
February 18, 2015
Institutional protocol to manage consanguinity detected by genetic testing in pregnancy in a minor
Laura P Chen, Anita E Beck, Karen D Tsuchiya, et al.
Human Genetics
|
April 22, 2014
Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism
Ghayda M Mirzaa, Benjamin Vitre, Gillian Carpenter, et al.
Prenatal Diagnosis
|
June 12, 2013
Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly-capillary malformation syndrome
Daniel T Swarr, Nahla Khalek, James Treat, et al.
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of 8
Search research articles
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Showing results (11-20 of 76) with videos related to
Sort By:
Page
of 8
American Journal of Medical Genetics. Part A
|
May 3, 2021
Hypoxia: A teratogen underlying a range of congenital disruptions, dysplasias, and malformations
Aaron P Adam, Kurlen S E Payton, Pedro A Sanchez-Lara, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
March 18, 2025
Evaluation of Targeted Therapies Currently Available for Congenital Genetic Conditions Indexed in GeneReviews
Nathan B Adam, Anne R Amemiya, Stephanie E Wallace, et al.
American Journal of Medical Genetics. Part A
|
August 5, 2011
The microcephaly-capillary malformation syndrome
Ghayda M Mirzaa, Alex R Paciorkowski, Christopher D Smyser, et al.
American Journal of Medical Genetics. Part A
|
January 18, 2018
Bi-allelic mutations of CCDC88C are a rare cause of severe congenital hydrocephalus
Gaia Ruggeri, Andrew E Timms, Chi Cheng, et al.
Cold Spring Harbor Molecular Case Studies
|
April 28, 2022
The utility of cerebrospinal fluid-derived cell-free DNA in molecular diagnostics for the <i>PIK3CA</i>-related megalencephaly-capillary malformation (MCAP) syndrome: a case report
Wei-Liang Chen, Emily Pao, James Owens, et al.
Human Mutation
|
November 24, 2015
Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of "PIK3CA-Related Overgrowth Spectrum"
Nataliya Di Donato, Andreas Rump, Ghayda M Mirzaa, et al.
American Journal of Medical Genetics. Part A
|
December 5, 2018
Expanding clinical phenotype in CACNA1C related disorders: From neonatal onset severe epileptic encephalopathy to late-onset epilepsy
Xiuhua Bozarth, Jennifer N Dines, Qian Cong, et al.
Pediatrics
|
February 18, 2015
Institutional protocol to manage consanguinity detected by genetic testing in pregnancy in a minor
Laura P Chen, Anita E Beck, Karen D Tsuchiya, et al.
Human Genetics
|
April 22, 2014
Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism
Ghayda M Mirzaa, Benjamin Vitre, Gillian Carpenter, et al.
Prenatal Diagnosis
|
June 12, 2013
Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly-capillary malformation syndrome
Daniel T Swarr, Nahla Khalek, James Treat, et al.
Page
of 8