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Anne Slavotinek

Showing results (71-80 of 147) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
The difficulties of broad data sharing in genomic medicine: Empirical evidence from diverse participants in prenatal and pediatric clinical genomics researchMatthew Norstad, Simon Outram, Julia E H Brown, et al.
European Journal of Human Genetics : EJHG|June 19, 2014
Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesisAlex Choi, Richard Lao, Paul Ling-Fung Tang, et al.
Journal of Medical Genetics|August 13, 2025
New patients with duplication of the pituitary gland-plus syndrome, including a <i>PTCH2</i> variant and a literature reviewKochakorn Buasri, Pattima Pakhathirathien, Thiparom Sananmuang, et al.
Neurology|May 3, 2023
Pregnancy Outcomes in Patients Exposed to OnabotulinumtoxinA Treatment: A Cumulative 29-Year Safety UpdateMitchell F Brin, Russell S Kirby, Anne Slavotinek, et al.
American Journal of Medical Genetics. Part A|May 6, 2016
An emerging, recognizable facial phenotype in association with mutations in GLI-similar 3 (GLIS3)Paul Dimitri, Elisa De Franco, Abdelhadi M Habeb, et al.
Pediatric Dermatology|September 19, 2025
Neonatal Inflammatory Skin and Bowel Disease 1 (NISBD1): A Case of ADAM17 Homozygous MutationHannah R Chang, Megan Bannon, Chloe Opper, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 4, 2024
Satisfaction with mode of delivery of genomic sequencing results in a diverse national sample of research participants through the Clinical Sequencing Evidence-Generating Research ConsortiumSarah Scollon, Jill O Robinson, Eunji Jo, et al.
Journal of Neurosurgery. Pediatrics|June 21, 2024
AXIN1 mutations in nonsyndromic craniosynostosisAndrew T Timberlake, Kshipra Hemal, Jonas A Gustafson, et al.
Clinical Genetics|November 7, 2025
Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly-Macrocephaly SyndromeIftekhar A Showpnil, Neta Feinstein-Goren, Lior Greenbaum, et al.
American Journal of Medical Genetics. Part A|September 13, 2017
HLX is a candidate gene for a pattern of anomalies associated with congenital diaphragmatic hernia, short bowel, and aspleniaSandra A Farrell, Sandi Sodhi, Christian R Marshall, et al.
Pageof 15

Showing results (71-80 of 147) with videos related to

Sort By:
Pageof 15
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
The difficulties of broad data sharing in genomic medicine: Empirical evidence from diverse participants in prenatal and pediatric clinical genomics researchMatthew Norstad, Simon Outram, Julia E H Brown, et al.
European Journal of Human Genetics : EJHG|June 19, 2014
Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesisAlex Choi, Richard Lao, Paul Ling-Fung Tang, et al.
Journal of Medical Genetics|August 13, 2025
New patients with duplication of the pituitary gland-plus syndrome, including a <i>PTCH2</i> variant and a literature reviewKochakorn Buasri, Pattima Pakhathirathien, Thiparom Sananmuang, et al.
Neurology|May 3, 2023
Pregnancy Outcomes in Patients Exposed to OnabotulinumtoxinA Treatment: A Cumulative 29-Year Safety UpdateMitchell F Brin, Russell S Kirby, Anne Slavotinek, et al.
American Journal of Medical Genetics. Part A|May 6, 2016
An emerging, recognizable facial phenotype in association with mutations in GLI-similar 3 (GLIS3)Paul Dimitri, Elisa De Franco, Abdelhadi M Habeb, et al.
Pediatric Dermatology|September 19, 2025
Neonatal Inflammatory Skin and Bowel Disease 1 (NISBD1): A Case of ADAM17 Homozygous MutationHannah R Chang, Megan Bannon, Chloe Opper, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 4, 2024
Satisfaction with mode of delivery of genomic sequencing results in a diverse national sample of research participants through the Clinical Sequencing Evidence-Generating Research ConsortiumSarah Scollon, Jill O Robinson, Eunji Jo, et al.
Journal of Neurosurgery. Pediatrics|June 21, 2024
AXIN1 mutations in nonsyndromic craniosynostosisAndrew T Timberlake, Kshipra Hemal, Jonas A Gustafson, et al.
Clinical Genetics|November 7, 2025
Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly-Macrocephaly SyndromeIftekhar A Showpnil, Neta Feinstein-Goren, Lior Greenbaum, et al.
American Journal of Medical Genetics. Part A|September 13, 2017
HLX is a candidate gene for a pattern of anomalies associated with congenital diaphragmatic hernia, short bowel, and aspleniaSandra A Farrell, Sandi Sodhi, Christian R Marshall, et al.
Pageof 15