Zoekresultaten - Conlin, Laura K.
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Mosaic ratio quantification of isochromosome 12p in Pallister–Killian syndrome using droplet digital PCR door Fujiki, Katsunori, Shirahige, Katsuhiko, Kaur, Maninder, Deardorff, Matthew A., Conlin, Laura K., Krantz, Ian D., Izumi, Kosuke
Gepubliceerd in 2016Text -
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DOCK3-related neurodevelopmental syndrome: Biallelic Intragenic Deletion of DOCK3 in a Boy with Developmental Delay and Hypotonia door Iwata-Otsubo, Aiko, Ritter, Alyssa L., Weckselbatt, Brooke, Ryan, Nicole R., Burgess, David, Conlin, Laura K., Izumi, Kosuke
Gepubliceerd in 2017Text -
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Genome-Wide Expression Analysis in Fibroblast Cell Lines from Probands with Pallister Killian Syndrome door Kaur, Maninder, Izumi, Kosuke, Wilkens, Alisha B., Chatfield, Kathryn C., Spinner, Nancy B., Conlin, Laura K., Zhang, Zhe, Krantz, Ian D.
Gepubliceerd in 2014Text -
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Characterization of a rare mosaic unbalanced translocation of t(3;12) in a patient with neurodevelopmental disorders door Hu, Xiaolin, Baker, Elizabeth K., Johnson, Jodie, Balow, Stephanie, Pena, Loren D. M., Conlin, Laura K., Guan, Qiaoning, Smolarek, Teresa A.
Gepubliceerd in 2022Text -
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Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism door Li, Dong, Strong, Alanna, Hou, Cuiping, Downes, Helen, Pritchard, Amanda Barone, Mazzeo, Pamela, Zackai, Elaine H., Conlin, Laura K., Hakonarson, Hakon
Gepubliceerd in 2022Text -
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Two Siblings with Alternate Unbalanced Recombinants Derived from a Large Cryptic Maternal Pericentric Inversion of Chromosome 20 door DeScipio, Cheryl, Morrissette, Jennifer J.D., Conlin, Laura K., Clark, Dinah, Kaur, Maninder, Coplan, James, Riethman, Harold, Spinner, Nancy B., Krantz, Ian D.
Gepubliceerd in 2010Text -
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CCBE1 Mutation in Two Siblings, One Manifesting Lymphedema-Cholestasis Syndrome, and the Other, Fetal Hydrops door Shah, Sohela, Conlin, Laura K., Gomez, Luis, Aagenaes, Øystein, Eiklid, Kristin, Knisely, A. S., Mennuti, Michael T., Matthews, Randolph P., Spinner, Nancy B., Bull, Laura N.
Gepubliceerd in 2013Text -
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Mosaic Trisomy 17: Variable Clinical and Cytogenetic Presentation door Daber, Robert D., Chapman, Kimberly A., Ruchelli, Eduardo, Kasperski, Stefanie, Mulchandani, Surabhi, Thiel, Brian D., Hakonarson, Hakon, Zackai, Elaine H., Conlin, Laura K., Spinner, Nancy B.
Gepubliceerd in 2011Text -
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Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results door Rajagopalan, Ramakrishnan, Gilbert, Melissa A., McEldrew, Deborah A., Nassur, James A., Loomes, Kathleen M., Piccoli, David A., Krantz, Ian D., Conlin, Laura K., Spinner, Nancy B.
Gepubliceerd in 2020Text -
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Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis door Conlin, Laura K., Thiel, Brian D., Bonnemann, Carsten G., Medne, Livija, Ernst, Linda M., Zackai, Elaine H., Deardorff, Matthew A., Krantz, Ian D., Hakonarson, Hakon, Spinner, Nancy B.
Gepubliceerd in 2010Text -
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Mechanisms of ring chromosome formation, ring instability and clinical consequences door Guilherme, Roberta S, Ayres Meloni, Vera F, Kim, Chong A, Pellegrino, Renata, Takeno, Sylvia S, Spinner, Nancy B, Conlin, Laura K, Christofolini, Denise M, Kulikowski, Leslie D, Melaragno, Maria I
Gepubliceerd in 2011Text -
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Mutations in the ABCC6 Gene as a Cause of Generalized Arterial Calcification of Infancy – Genotypic Overlap with Pseudoxanthoma Elasticum door Li, Qiaoli, Brodsky, Jill L., Conlin, Laura K., Pawel, Bruce, Glatz, Andrew C., Gafni, Rachel I., Schurgers, Leon, Uitto, Jouni, Hakonarson, Hakon, Deardorff, Matthew A., Levine, Michael A.
Gepubliceerd in 2013Text -
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Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders door Romasko, Edward J., Devkota, Batsal, Biswas, Sawona, Jayaraman, Vijayakumar, Rajagopalan, Ramakrishnan, Dulik, Matthew C., Thom, Christopher S., Choi, Jiwon, Jairam, Sowmya, Scarano, Maria I., Krantz, Ian D., Spinner, Nancy B., Conlin, Laura K., Lambert, Michele P.
Gepubliceerd in 2017Text -
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Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy door Balciuniene, Jorune, DeChene, Elizabeth T., Akgumus, Gozde, Romasko, Edward J., Cao, Kajia, Dubbs, Holly A., Mulchandani, Surabhi, Spinner, Nancy B., Conlin, Laura K., Marsh, Eric D., Goldberg, Ethan, Helbig, Ingo, Sarmady, Mahdi, Abou Tayoun, Ahmad
Gepubliceerd in 2019Text -
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Genome-wide SNP Genotyping Identifies the Stereocilin (STRC) Gene as a Major Contributor to Pediatric Bilateral Sensorineural Hearing Impairment door Francey, Lauren J, Conlin, Laura K, Kadesch, Hanna E, Clark, Dinah, Berrodin, Donna, Sun, Yi, Glessner, Joe, Hakonarson, Hakon, Jalas, Chaim, Landau, Chaim, Spinner, Nancy B, Kenna, Margaret, Sagi, Michal, Rehm, Heidi L, Krantz, Ian D
Gepubliceerd in 2011Text -
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Large Genomic Deletions: a Novel Cause of Ullrich Congenital Muscular Dystrophy door Foley, A. Reghan, Hu, Ying, Zou, Yaqun, Yang, Michele, Medne, Līvija, Leach, Meganne, Conlin, Laura K., Spinner, Nancy, Shaikh, Tamim H., Falk, Marni, Neumeyer, Ann M., Bliss, Laurie, Tseng, Brian S., Winder, Thomas L., Bönnemann, Carsten G.
Gepubliceerd in 2011Text