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Clinical Case Reports|February 27, 2023

Compound heterozygosity of a de novo submicroscopic deletion and an inherited frameshift pathogenic variant in the PKHD1 gene in a fetus with bilaterally enlarged and echogenic kidneys, enlarged abdomen and oligohydramniosTakuya Sakyu, Samantha R Stover, Yue Wang, et al.

Prenatal Diagnosis|August 16, 2015

Reproductive genetic counseling challenges associated with diagnostic exome sequencing in a large academic private reproductive genetic counseling practiceLauren E Westerfield, Samantha R Stover, Veena S Mathur, et al.

Journal of Pediatric Genetics|November 16, 2018

Prioritization of Candidate Genes for Congenital Diaphragmatic Hernia in a Critical Region on Chromosome 4p16 using a Machine-Learning AlgorithmDanielle A Callaway, Ian M Campbell, Samantha R Stover, et al.

Medrxiv : the Preprint Server for Health Sciences|January 2, 2026

De novo MAP2K4 variants cause a novel neurodevelopmental syndrome with impaired JNK signaling in iPSC-derived neuronsTomoki T Nomakuchi, Alyssa L Rippert, Sabrina A Santos De León, et al.

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Showing results (1-10 of 4) with videos related to

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Pageof 1

Clinical Case Reports|February 27, 2023

Compound heterozygosity of a de novo submicroscopic deletion and an inherited frameshift pathogenic variant in the PKHD1 gene in a fetus with bilaterally enlarged and echogenic kidneys, enlarged abdomen and oligohydramniosTakuya Sakyu, Samantha R Stover, Yue Wang, et al.

Prenatal Diagnosis|August 16, 2015

Reproductive genetic counseling challenges associated with diagnostic exome sequencing in a large academic private reproductive genetic counseling practiceLauren E Westerfield, Samantha R Stover, Veena S Mathur, et al.

Journal of Pediatric Genetics|November 16, 2018

Prioritization of Candidate Genes for Congenital Diaphragmatic Hernia in a Critical Region on Chromosome 4p16 using a Machine-Learning AlgorithmDanielle A Callaway, Ian M Campbell, Samantha R Stover, et al.

Medrxiv : the Preprint Server for Health Sciences|January 2, 2026

De novo MAP2K4 variants cause a novel neurodevelopmental syndrome with impaired JNK signaling in iPSC-derived neuronsTomoki T Nomakuchi, Alyssa L Rippert, Sabrina A Santos De León, et al.

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