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발행년	- (예 : 2010-2015)

전체선택

Mild Idiopathic Infantile Hypercalcemia--Part 1: Biochemical and Genetic Findings
Clinical Research Article

Academic Journal

Lenherr-Taube, Nina; Young, Edwin J.; Furman, Michelle; Elia, Yesmino; Assor, Esther; Chitayat, David; Uster, Tami; Kirwin, Susan; Robbins, Katherine; Vinette, Kathleen M. B.; Daneman, Alan; Marshall, Christian R.; Collins, Carol; Thummel, Kenneth; Sochett, Etienne; Levine, Michael A.

Journal of Clinical Endocrinology & Metabolism. October 2021, Vol. 106 Issue 10, p2915, 23 p.

Full Text (Oxford University Press) Full Text (Gale Academic Onefile) Open Access (EBSCO) Web of Science JCR 저널정보 Scopus Find it@PNU

Erratum to “Detection of rarely identified multiple mutations inMECP2gene do not contribute to enhanced severity in Rett syndrome”, Am J Med Genet Part A 161A:1638-1646

Academic Journal

Chapleau, Christopher A; Lane, Jane; Kirwin, Susan; Schanen, Carolyn; Vinette, Kathy MB; Stubbolo, Danielle; MacLeod, Patrick; Glaze, Daniel G; Motil, Kathleen J; Neul, Jeffrey L; Skinner, Steven A; Kaufmann, Walter E; Percy, Alan K

American Journal of Medical Genetics Part A. 164(5)

Open Access (eScholarship) Find it@PNU

Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next‐generation sequencing.

Academic Journal

Schmidt, Johanna L.; Pizzino, Amy; Nicholl, Jessica; Foley, Allison; Wang, Yue; Rosenfeld, Jill A.; Mighion, Lindsey; Bean, Lora; Silva, Cristina; Cho, Megan T.; Truty, Rebecca; Garcia, John; Speare, Virginia; Blanco, Kirsten; Powis, Zoe; Hobson, Grace M.; Kirwin, Susan; Krock, Bryan; Lee, Hane; Deignan, Joshua L.

American Journal of Medical Genetics. Part A; Aug2020, Vol. 182 Issue 8, p1906-1912, 7p

Full Text (Wiley Journals) Full Text (Wiley-DB) Web of Science JCR 저널정보 Scopus Find it@PNU

Mild Idiopathic Infantile Hypercalcemia—Part 1: Biochemical and Genetic Findings

Electronic Resource

Lenherr-Taube, Nina; https://orcid.org/0000-0001-8918-3963; Young, Edwin J; Furman, Michelle; Elia, Yesmino; Assor, Esther; Chitayat, David; Uster, Tami; Kirwin, Susan; Robbins, Katherine; Vinette, Kathleen M B; Daneman, Alan; Marshall, Christian R; Collins, Carol; Thummel, Kenneth; Sochett, Etienne; https://orcid.org/0000-0002-7027-7123; Levine, Michael A

Lenherr-Taube, Nina; Young, Edwin J; Furman, Michelle; Elia, Yesmino; Assor, Esther; Chitayat, David; Uster, Tami; Kirwin, Susan; Robbins, Katherine; Vinette, Kathleen M B; Daneman, Alan; Marshall, Christian R; Collins, Carol; Thummel, Kenneth; Sochett, Etienne; Levine, Michael A (2021). Mild Idiopathic Infantile Hypercalcemia—Part 1: Biochemical and Genetic Findings. Journal of Clinical Endocrinology & Metabolism, 106(10):2915-2937.

Open Access (OAIster)

Erratum to 'Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome', Am J Med Genet Part A 161A:1638-1646.

Academic Journal

Chapleau, Christopher A.; Lane, Jane; Kirwin, Susan; Schanen, Carolyn; Vinette, Kathy M. B.; Stubbolo, Danielle; MacLeod, Patrick; Glaze, Daniel G.; Motil, Kathleen J.; Neul, Jeffrey L.; Skinner, Steven A.; Kaufmann, Walter E.; Percy, Alan K.

American Journal of Medical Genetics. Part A; May2014, Vol. 164A Issue 5, p1346-1346, 1p

Full Text (Wiley Journals) Full Text (Wiley-DB) Web of Science JCR 저널정보 Scopus Find it@PNU

Hypoplastic Left Heart Syndrome: Molecular Consequences of Transcription Factor Mutations

Academic Journal

Shay, Ashley Elizabeth; Kirwin, Susan; Prospero, Carol; Pizarro, Christian; Funanage, Vicky

FASEB JOURNAL; APR 2012, 26 1p.

Web of Science JCR 저널정보 Find it@PNU

Hypoplastic Left Heart Syndrome: Molecular Consequences of Transcription Factor Mutations

Academic Journal

Shay, Ashley; Kirwin, Susan; Funanage, Vicky

FASEB JOURNAL; APR 2011, 25 1p.

Web of Science JCR 저널정보 Find it@PNU

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