खोज परिणाम - Conlin, Laura

परिणाम को परिष्कृत करें
  1. 1
    The Natural Osmolyte Trehalose Is a Positive Regulator of the Heat-Induced Activity of Yeast Heat Shock Transcription Factor

    The Natural Osmolyte Trehalose Is a Positive Regulator of the Heat-Induced Activity of Yeast Heat Shock Transcription Factor द्वारा Conlin, Laura K., Nelson, Hillary C. M.

    प्रकाशित 2007
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  2. 2
    A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data

    A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data द्वारा Rajagopalan, Ramakrishnan, Murrell, Jill R., Luo, Minjie, Conlin, Laura K.

    प्रकाशित 2020
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
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  3. 3
    Water structure in vitro and within Saccharomyces cerevisiae yeast cells under conditions of heat shock

    Water structure in vitro and within Saccharomyces cerevisiae yeast cells under conditions of heat shock द्वारा Dashnau, Jennifer L., Conlin, Laura K., Nelson, Hillary C. M., Vanderkooi, Jane M.

    प्रकाशित 2007
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  4. 4
    Persistent Mosaicism for 12p Duplication/Triplication Chromosome Structural Abnormality in Peripheral Blood

    Persistent Mosaicism for 12p Duplication/Triplication Chromosome Structural Abnormality in Peripheral Blood द्वारा Shackelford, Amy L., Conlin, Laura K., Hummel, Marybeth, Spinner, Nancy B., Wenger, Sharon L.

    प्रकाशित 2013
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
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  5. 5
    Mosaic ratio quantification of isochromosome 12p in Pallister–Killian syndrome using droplet digital PCR

    Mosaic ratio quantification of isochromosome 12p in Pallister–Killian syndrome using droplet digital PCR द्वारा Fujiki, Katsunori, Shirahige, Katsuhiko, Kaur, Maninder, Deardorff, Matthew A., Conlin, Laura K., Krantz, Ian D., Izumi, Kosuke

    प्रकाशित 2016
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  6. 6
    DOCK3-related neurodevelopmental syndrome: Biallelic Intragenic Deletion of DOCK3 in a Boy with Developmental Delay and Hypotonia

    DOCK3-related neurodevelopmental syndrome: Biallelic Intragenic Deletion of DOCK3 in a Boy with Developmental Delay and Hypotonia द्वारा Iwata-Otsubo, Aiko, Ritter, Alyssa L., Weckselbatt, Brooke, Ryan, Nicole R., Burgess, David, Conlin, Laura K., Izumi, Kosuke

    प्रकाशित 2017
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  7. 7
    Genome-Wide Expression Analysis in Fibroblast Cell Lines from Probands with Pallister Killian Syndrome

    Genome-Wide Expression Analysis in Fibroblast Cell Lines from Probands with Pallister Killian Syndrome द्वारा Kaur, Maninder, Izumi, Kosuke, Wilkens, Alisha B., Chatfield, Kathryn C., Spinner, Nancy B., Conlin, Laura K., Zhang, Zhe, Krantz, Ian D.

    प्रकाशित 2014
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
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  8. 8
    Characterization of a rare mosaic unbalanced translocation of t(3;12) in a patient with neurodevelopmental disorders

    Characterization of a rare mosaic unbalanced translocation of t(3;12) in a patient with neurodevelopmental disorders द्वारा Hu, Xiaolin, Baker, Elizabeth K., Johnson, Jodie, Balow, Stephanie, Pena, Loren D. M., Conlin, Laura K., Guan, Qiaoning, Smolarek, Teresa A.

    प्रकाशित 2022
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  9. 9
    Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism

    Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism द्वारा Li, Dong, Strong, Alanna, Hou, Cuiping, Downes, Helen, Pritchard, Amanda Barone, Mazzeo, Pamela, Zackai, Elaine H., Conlin, Laura K., Hakonarson, Hakon

    प्रकाशित 2022
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
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  10. 10
    Two Siblings with Alternate Unbalanced Recombinants Derived from a Large Cryptic Maternal Pericentric Inversion of Chromosome 20

    Two Siblings with Alternate Unbalanced Recombinants Derived from a Large Cryptic Maternal Pericentric Inversion of Chromosome 20 द्वारा DeScipio, Cheryl, Morrissette, Jennifer J.D., Conlin, Laura K., Clark, Dinah, Kaur, Maninder, Coplan, James, Riethman, Harold, Spinner, Nancy B., Krantz, Ian D.

    प्रकाशित 2010
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  11. 11
    CCBE1 Mutation in Two Siblings, One Manifesting Lymphedema-Cholestasis Syndrome, and the Other, Fetal Hydrops

    CCBE1 Mutation in Two Siblings, One Manifesting Lymphedema-Cholestasis Syndrome, and the Other, Fetal Hydrops द्वारा 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.

    प्रकाशित 2013
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  12. 12
    Mosaic Trisomy 17: Variable Clinical and Cytogenetic Presentation

    Mosaic Trisomy 17: Variable Clinical and Cytogenetic Presentation द्वारा 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.

    प्रकाशित 2011
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  13. 13
    Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results

    Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results द्वारा 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.

    प्रकाशित 2020
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
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  14. 14
    Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis

    Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis द्वारा 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.

    प्रकाशित 2010
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  15. 15
    Mechanisms of ring chromosome formation, ring instability and clinical consequences

    Mechanisms of ring chromosome formation, ring instability and clinical consequences द्वारा 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

    प्रकाशित 2011
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
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  16. 16
    Mutations in the ABCC6 Gene as a Cause of Generalized Arterial Calcification of Infancy – Genotypic Overlap with Pseudoxanthoma Elasticum

    Mutations in the ABCC6 Gene as a Cause of Generalized Arterial Calcification of Infancy – Genotypic Overlap with Pseudoxanthoma Elasticum द्वारा 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.

    प्रकाशित 2013
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  17. 17
    EGFR mutations cause a lethal syndrome of epithelial dysfunction with progeroid features

    EGFR mutations cause a lethal syndrome of epithelial dysfunction with progeroid features द्वारा Ganetzky, Rebecca, Finn, Erin, Bagchi, Atrish, Zollo, Ornella, Conlin, Laura, Deardorff, Matthew, Harr, Margaret, Simpson, Michael A, McGrath, John A, Zackai, Elaine, Lemmon, Mark A, Sondheimer, Neal

    प्रकाशित 2015
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  18. 18
    Congenital Hyperinsulinism in Infants with Turner Syndrome: Possible Association with Monosomy X and KDM6A Haploinsufficiency

    Congenital Hyperinsulinism in Infants with Turner Syndrome: Possible Association with Monosomy X and KDM6A Haploinsufficiency द्वारा Gibson, Christopher E., Boodhansingh, Kara E., Li, Changhong, Conlin, Laura, Chen, Pan, Becker, Susan A., Bhatti, Tricia, Bamba, Vaneeta, Adzick, N. Scott, De Leon, Diva D., Ganguly, Arupa, Stanley, Charles A.

    प्रकाशित 2018
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  19. 19
    Yield of Additional Genetic Testing after Chromosomal Microarray for Diagnosis of Neurodevelopmental Disability and Congenital Anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

    Yield of Additional Genetic Testing after Chromosomal Microarray for Diagnosis of Neurodevelopmental Disability and Congenital Anomalies: a clinical practice resource of the Americ... द्वारा Waggoner, Darrel, Wain, Karen E., Dubuc, Adrian M., Conlin, Laura, Hickey, Scott E., Lamb, Allen N, Lese Martin, Christa, Morton, Cynthia C., Rasmussen, Kristen, Schuette, Jane L, Schwartz, Stuart, Miller, David T.

    प्रकाशित 2018
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  20. 20
    Histologic and Molecular Profile of Pediatric Insulinomas: Evidence of a Paternal Parent-of-Origin Effect

    Histologic and Molecular Profile of Pediatric Insulinomas: Evidence of a Paternal Parent-of-Origin Effect द्वारा Bhatti, Tricia R., Ganapathy, Karthik, Huppmann, Alison R., Conlin, Laura, Boodhansingh, Kara E., MacMullen, Courtney, Becker, Susan, Ernst, Linda M., Adzick, N. Scott, Ruchelli, Eduardo D., Ganguly, Arupa, Stanley, Charles A.

    प्रकाशित 2016
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