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Pawel Stankiewicz

Showing results (11-20 of 140) with videos related to

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Trends in Genetics : TIG|April 26, 2015
Somatic mosaicism: implications for disease and transmission geneticsIan M Campbell, Chad A Shaw, Pawel Stankiewicz, et al.
Journal of Human Genetics|April 26, 2018
An estimation of the prevalence of genomic disorders using chromosomal microarray dataMadelyn A Gillentine, Philip J Lupo, Pawel Stankiewicz, et al.
Genome Research|February 8, 2007
AT-rich repeats associated with chromosome 22q11.2 rearrangement disorders shape human genome architecture on Yq12Melanie Babcock, Svetlana Yatsenko, Pawel Stankiewicz, et al.
Clinical Genetics|September 3, 2010
Disruption of the SCN2A and SCN3A genes in a patient with mental retardation, neurobehavioral and psychiatric abnormalities, and a history of infantile seizuresM Bartnik, A Chun-Hui Tsai, Z Xia, et al.
American Journal of Medical Genetics. Part A|December 31, 2003
A girl with duplication 17p10-p12 associated with a dicentric chromosomeChristine J Shaw, Pawel Stankiewicz, John Christodoulou, et al.
Expert Review of Molecular Diagnostics|September 21, 2020
Clinical genomics and contextualizing genome variation in the diagnostic laboratoryJames R Lupski, Pengfei Liu, Pawel Stankiewicz, et al.
Genomics|May 7, 2026
Small partial deletion of a highly GC-rich FOXF1 exon 1 in two deceased siblings with alveolar capillary dysplasiaHiuling Chan Joiner, Shruti A Pande, Przemyslaw Szafranski, et al.
The Journal of Pediatrics|December 26, 2015
Prenatal Diagnosis of Alveolar Capillary Dysplasia with Misalignment of Pulmonary VeinsStephanie L Prothro, Erin Plosa, Melinda Markham, et al.
Familial Cancer|November 20, 2024
A family-based approach to cascade genetic testing in a pediatric cancer genetics clinicRida Haider, Lauren Desrosiers-Battu, Sarah Scollon, et al.
Medycyna Wieku Rozwojowego|October 10, 2006
[Cytogenetic-molecular analysis of balanced chromosomal rearrangements in nine patients with intellectual disability, dysmorphic features and congenital abnormalities]Katarzyna Borg, Ewa Bocian, Pawel Stankiewicz, et al.
Pageof 14

Showing results (11-20 of 140) with videos related to

Sort By:
Pageof 14
Trends in Genetics : TIG|April 26, 2015
Somatic mosaicism: implications for disease and transmission geneticsIan M Campbell, Chad A Shaw, Pawel Stankiewicz, et al.
Journal of Human Genetics|April 26, 2018
An estimation of the prevalence of genomic disorders using chromosomal microarray dataMadelyn A Gillentine, Philip J Lupo, Pawel Stankiewicz, et al.
Genome Research|February 8, 2007
AT-rich repeats associated with chromosome 22q11.2 rearrangement disorders shape human genome architecture on Yq12Melanie Babcock, Svetlana Yatsenko, Pawel Stankiewicz, et al.
Clinical Genetics|September 3, 2010
Disruption of the SCN2A and SCN3A genes in a patient with mental retardation, neurobehavioral and psychiatric abnormalities, and a history of infantile seizuresM Bartnik, A Chun-Hui Tsai, Z Xia, et al.
American Journal of Medical Genetics. Part A|December 31, 2003
A girl with duplication 17p10-p12 associated with a dicentric chromosomeChristine J Shaw, Pawel Stankiewicz, John Christodoulou, et al.
Expert Review of Molecular Diagnostics|September 21, 2020
Clinical genomics and contextualizing genome variation in the diagnostic laboratoryJames R Lupski, Pengfei Liu, Pawel Stankiewicz, et al.
Genomics|May 7, 2026
Small partial deletion of a highly GC-rich FOXF1 exon 1 in two deceased siblings with alveolar capillary dysplasiaHiuling Chan Joiner, Shruti A Pande, Przemyslaw Szafranski, et al.
The Journal of Pediatrics|December 26, 2015
Prenatal Diagnosis of Alveolar Capillary Dysplasia with Misalignment of Pulmonary VeinsStephanie L Prothro, Erin Plosa, Melinda Markham, et al.
Familial Cancer|November 20, 2024
A family-based approach to cascade genetic testing in a pediatric cancer genetics clinicRida Haider, Lauren Desrosiers-Battu, Sarah Scollon, et al.
Medycyna Wieku Rozwojowego|October 10, 2006
[Cytogenetic-molecular analysis of balanced chromosomal rearrangements in nine patients with intellectual disability, dysmorphic features and congenital abnormalities]Katarzyna Borg, Ewa Bocian, Pawel Stankiewicz, et al.
Pageof 14