Search research articles
Contact Us
Filters
Showing results (41-50 of 147) with videos related to
Page
of 15
Sort By:
American Journal of Medical Genetics. Part A
|
December 27, 2022
TRAPPC9-related neurodevelopmental disorder: Report of a homozygous deletion in TRAPPC9 due to paternal uniparental isodisomy
Monica Penon-Portmann, Ugur Hodoglugil, Wiita Arun P, et al.
American Journal of Medical Genetics. Part A
|
June 8, 2017
Clinical report: A patient with a late diagnosis of cerebrotendinous xanthomatosis and a response to treatment
Ahmad Alhariri, Katherine Hamilton, Vikash Oza, et al.
American Journal of Medical Genetics. Part A
|
April 15, 2025
A Case of Prader-Willi Syndrome With a Deletion Including MAGEL2, NDN, and MKRN3, but Excluding SNRPN and SNORD116
Jannis Buecking, Yu An, Weimin Bi, et al.
American Journal of Medical Genetics. Part A
|
July 18, 2009
Novel FGFR2 deletion in a patient with Beare-Stevenson-like syndrome
Anne Slavotinek, Howard Crawford, Mahin Golabi, et al.
Molecular Genetics & Genomic Medicine
|
July 28, 2019
TASP1 mutation in a female with craniofacial anomalies, anterior segment dysgenesis, congenital immunodeficiency and macrocytic anemia
Daniel M Balkin, Menitha Poranki, Craig M Forester, et al.
American Journal of Medical Genetics. Part A
|
July 17, 2007
Agenesis of the corpus callosum, optic coloboma, intractable seizures, craniofacial and skeletal dysmorphisms: an autosomal recessive disorder similar to Temtamy syndrome
Jiang Li, Shilpa Shivakumar, Mari Wakahiro, et al.
BMC Medical Genetics
|
July 28, 2007
Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes
Ravinesh A Kumar, David B Everman, Chad T Morgan, et al.
American Journal of Medical Genetics. Part A
|
May 8, 2014
Nine patients with Xp22.31 microduplication, cognitive deficits, seizures, and talipes anomalies
Edward D Esplin, Ben Li, Anne Slavotinek, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 11, 2019
Perspectives of US private payers on insurance coverage for pediatric and prenatal exome sequencing: Results of a study from the Program in Prenatal and Pediatric Genomic Sequencing (P3EGS)
Julia R Trosman, Christine B Weldon, Anne Slavotinek, et al.
Pharmacoepidemiology and Drug Safety
|
December 5, 2015
Pregnancy outcomes following exposure to onabotulinumtoxinA
Mitchell F Brin, Russell S Kirby, Anne Slavotinek, et al.
Page
of 15
Search research articles
Search
Showing results (41-50 of 147) with videos related to
Sort By:
Page
of 15
American Journal of Medical Genetics. Part A
|
December 27, 2022
TRAPPC9-related neurodevelopmental disorder: Report of a homozygous deletion in TRAPPC9 due to paternal uniparental isodisomy
Monica Penon-Portmann, Ugur Hodoglugil, Wiita Arun P, et al.
American Journal of Medical Genetics. Part A
|
June 8, 2017
Clinical report: A patient with a late diagnosis of cerebrotendinous xanthomatosis and a response to treatment
Ahmad Alhariri, Katherine Hamilton, Vikash Oza, et al.
American Journal of Medical Genetics. Part A
|
April 15, 2025
A Case of Prader-Willi Syndrome With a Deletion Including MAGEL2, NDN, and MKRN3, but Excluding SNRPN and SNORD116
Jannis Buecking, Yu An, Weimin Bi, et al.
American Journal of Medical Genetics. Part A
|
July 18, 2009
Novel FGFR2 deletion in a patient with Beare-Stevenson-like syndrome
Anne Slavotinek, Howard Crawford, Mahin Golabi, et al.
Molecular Genetics & Genomic Medicine
|
July 28, 2019
TASP1 mutation in a female with craniofacial anomalies, anterior segment dysgenesis, congenital immunodeficiency and macrocytic anemia
Daniel M Balkin, Menitha Poranki, Craig M Forester, et al.
American Journal of Medical Genetics. Part A
|
July 17, 2007
Agenesis of the corpus callosum, optic coloboma, intractable seizures, craniofacial and skeletal dysmorphisms: an autosomal recessive disorder similar to Temtamy syndrome
Jiang Li, Shilpa Shivakumar, Mari Wakahiro, et al.
BMC Medical Genetics
|
July 28, 2007
Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes
Ravinesh A Kumar, David B Everman, Chad T Morgan, et al.
American Journal of Medical Genetics. Part A
|
May 8, 2014
Nine patients with Xp22.31 microduplication, cognitive deficits, seizures, and talipes anomalies
Edward D Esplin, Ben Li, Anne Slavotinek, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 11, 2019
Perspectives of US private payers on insurance coverage for pediatric and prenatal exome sequencing: Results of a study from the Program in Prenatal and Pediatric Genomic Sequencing (P3EGS)
Julia R Trosman, Christine B Weldon, Anne Slavotinek, et al.
Pharmacoepidemiology and Drug Safety
|
December 5, 2015
Pregnancy outcomes following exposure to onabotulinumtoxinA
Mitchell F Brin, Russell S Kirby, Anne Slavotinek, et al.
Page
of 15