نتائج البحث - "Colaiacovo, Samantha"

1

Academic Journal

Implementation of a Kidney Genetic Service Into the Diagnostic Pathway for Patients With Chronic Kidney Disease in Canada

المساهمون: London Health Sciences Centre, Western University Schulich School of Medicine & Dentistry, Academic Medical Organization of Southwestern Ontario

المصدر: Kidney International Reports ; ISSN 2468-0249

الاتاحة: https://doi.org/10.1016/j.ekir.2024.11.004
https://api.elsevier.com/content/article/PII:S246802492402014X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S246802492402014X?httpAccept=text/plain

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2

Academic Journal

Reclassification of Genetic Testing Results: A Case Report Demonstrating the Need for Structured Re-Evaluation of Genetic Findings

المؤلفون: Schott, Clara, Colaiacovo, Samantha, Baker, Cadence, Weir, Matthew A., Connaughton, Dervla M.

المساهمون: Academic Medical Organization of Southwestern Ontario, Department of Medicine London Health Science Centre

المصدر: Canadian Journal of Kidney Health and Disease ; volume 11 ; ISSN 2054-3581 2054-3581

الاتاحة: http://dx.doi.org/10.1177/20543581241242562
https://journals.sagepub.com/doi/pdf/10.1177/20543581241242562
https://journals.sagepub.com/doi/full-xml/10.1177/20543581241242562

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3

Academic Journal

An uninformative NIPT as an early indicator of cri‐du‐chat due to a chromosomal 5;18 translocation—An atypical presentation of a rare cytogenetic phenomenon

المؤلفون: Shukla, Devanshi, Dinunzio, Matthew, Colaiacovo, Samantha, Meybodi, Anahita Mohseni, Saleh, Maha

المصدر: Clinical Case Reports ; volume 11, issue 8 ; ISSN 2050-0904 2050-0904

الاتاحة: http://dx.doi.org/10.1002/ccr3.7732
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.7732

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4

Academic Journal

Dual diagnosis of trisomy 21 and lethal perinatal Gaucher disease as a cause of non‐immune hydrops fetalis in a twin pregnancy for a consanguineous couple

المؤلفون: Al Harthy, Talib, Colaiacovo, Samantha, Gratton, Robert J., Coughlin, Kevin, Siu, Victoria Mok, Prasad, Chitra, Rupar, Charles, Saleh, Maha

المصدر: Clinical Case Reports ; volume 11, issue 8 ; ISSN 2050-0904 2050-0904

الاتاحة: http://dx.doi.org/10.1002/ccr3.7827
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.7827

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5

Academic Journal

Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families

المؤلفون: Wojcik, Monica H, Srivastava, Siddharth, Agrawal, Pankaj B, Balci, Tugce B, Callewaert, Bert, Calvo, Pier Luigi, Carli, Diana, Caudle, Michelle, Colaiacovo, Samantha, Cross, Laura, Demetriou, Kalliope, Drazba, Katy, Dutra-Clarke, Marina, Edwards, Matthew, Genetti, Casie A, Grange, Dorothy K, Hickey, Scott E, Isidor, Bertrand, Küry, Sébastien, Lachman, Herbert M, Lavillaureix, Alinoe, Lyons, Michael J, Marcelis, Carlo, Marco, Elysa J, Martinez-Agosto, Julian A, Nowak, Catherine, Pizzol, Antonio, Planes, Marc, Prijoles, Eloise J, Riberi, Evelise, Rush, Eric T, Russell, Bianca E, Sachdev, Rani, Schmalz, Betsy, Shears, Deborah, Stevenson, David A, Wilson, Kate, Jansen, Sandra, de Vries, Bert B A, Curry, Cynthia J

المساهمون: Wojcik, Monica H, Srivastava, Siddharth, Agrawal, Pankaj B, Balci, Tugce B, Callewaert, Bert, Calvo, Pier Luigi, Carli, Diana, Caudle, Michelle, Colaiacovo, Samantha, Cross, Laura, Demetriou, Kalliope, Drazba, Katy, Dutra-Clarke, Marina, Edwards, Matthew, Genetti, Casie A, Grange, Dorothy K, Hickey, Scott E, Isidor, Bertrand, Küry, Sébastien, Lachman, Herbert M, Lavillaureix, Alinoe, Lyons, Michael J, Marcelis, Carlo, Marco, Elysa J, Martinez-Agosto, Julian A, Nowak, Catherine, Pizzol, Antonio, Planes, Marc, Prijoles, Eloise J, Riberi, Evelise, Rush, Eric T, Russell, Bianca E, Sachdev, Rani, Schmalz, Betsy, Shears, Deborah, Stevenson, David A, Wilson, Kate, Jansen, Sandra, de Vries, Bert B A, Curry, Cynthia J

مصطلحات موضوعية: Jansen-de Vries syndrome, PPM1D, cyclic vomiting, developmental delay, hypersocial personality

Relation: info:eu-repo/semantics/altIdentifier/pmid/37183572; info:eu-repo/semantics/altIdentifier/wos/WOS:000993565900001; volume:191; issue:7; firstpage:1900; lastpage:1910; numberofpages:11; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; https://hdl.handle.net/2318/1921197; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85159181090

الاتاحة: https://hdl.handle.net/2318/1921197
https://doi.org/10.1002/ajmg.a.63226

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