Rezultati - Sally Ann Lynch

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  1. 1
    Autosomal dominant sacral agenesis: Currarino syndrome

    Autosomal dominant sacral agenesis: Currarino syndrome od Sally Ann Lynch

    Izdano 2000
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  2. 2
    Recurrence risk for psoriasis and psoriatic arthritis within sibships

    Recurrence risk for psoriasis and psoriatic arthritis within sibships od A. Myers, L Kay, Sally Ann Lynch, D. J. Walker

    Izdano 2005
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  3. 3
    Recessive mutations in<i>MCM4</i>/<i>PRKDC</i>cause a novel syndrome involving a primary immunodeficiency and a disorder of DNA repair

    Recessive mutations in<i>MCM4</i>/<i>PRKDC</i>cause a novel syndrome involving a primary immunodeficiency and a disorder of DNA repair od Jillian P. Casey, Michael C. Nobbs, Paul McGettigan, Sally Ann Lynch, Sean Ennis

    Izdano 2012
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  4. 4
    Susceptibility to spina bifida; an association study of five candidate genes

    Susceptibility to spina bifida; an association study of five candidate genes od Katie Morrison, Charalambos Papapetrou, Frans A. Hol, Edwin C.M. Mariman, Sally Ann Lynch, John Burn, Yvonne H. Edwards

    Izdano 1998
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  5. 5
    A Genomewide Scan Identifies Novel Early-Onset Primary Open-Angle Glaucoma Loci on 9q22 and 20p12

    A Genomewide Scan Identifies Novel Early-Onset Primary Open-Angle Glaucoma Loci on 9q22 and 20p12 od J.L. Wiggs, Sally Ann Lynch, G. Ynagi, Mara Maselli, J. Auguste, Elizabeth A. Del Bono, Lana M. Olson, Jonathan L. Haines

    Izdano 2004
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  6. 6
    A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36

    A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36 od Sally Ann Lynch, Patricia M. Bond, Andrew J. Copp, W. O. Kirwan, Shawqui Nour, Rudi Balling, Edwin C.M. Mariman, John Burn, Tom Strachan

    Izdano 1995
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  7. 7
    NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment

    NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment od Jillian P. Casey, Svein I. Støve, Catherine McGorrian, Joseph Galvin, Marina Blenski, Aimee Dunne, Sean Ennis, Francesca Brett, Mary D. King, Thomas Arnesen, Sally Ann Lynch

    Izdano 2015
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  8. 8
    Identification of a mutation in LARS as a novel cause of infantile hepatopathy

    Identification of a mutation in LARS as a novel cause of infantile hepatopathy od Jillian P. Casey, Paul McGettigan, Niamh Lynam‐Lennon, Michael McDermott, Regina Regan, Judith Conroy, Billy Bourke, Jacintha O' Sullivan, Ellen Crushell, Sally Ann Lynch, Sean Ennis

    Izdano 2012
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  9. 9
    Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion

    Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion od Nicholas M. Allen, Judith Conroy, Amre Shahwan, Bryan Lynch, Raony G. Correa, Sérgio D.J. Pena, Dara McCreary, Tiago R. Magalhães, Sean Ennis, Sally Ann Lynch, Mary D. King

    Izdano 2015
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  10. 10
    Mutations in SOX2 cause anophthalmia

    Mutations in SOX2 cause anophthalmia od Judy Fantes, Nicola Ragge, Sally Ann Lynch, Niolette I. McGill, J. R. O. Collin, Patricia N. Howard‐Peebles, Caroline Hayward, Anthony J. Vivian, Kathy Williamson, Veronica van Heyningen, David Fitzpatrick

    Izdano 2003
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  11. 11
    A novel locus for episodic ataxia:UBR4 the likely candidate

    A novel locus for episodic ataxia:UBR4 the likely candidate od Judith Conroy, Paul McGettigan, Raymond P. Murphy, David Webb, Sinéad M. Murphy, Bláthnaid McCoy, Christine Albertyn, Dara McCreary, C. L. McDonagh, Órla Walsh, Sally Ann Lynch, Sean Ennis

    Izdano 2013
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  12. 12
    8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH

    8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH od John Barber, Viv Maloney, Shuwen Huang, David J. Bunyan, Lara Cresswell, Esther Kinning, Anna Benson, Tim Cheetham, Jonathan Wyllie, Sally Ann Lynch, Simon Zwolinski, Laura Prescott, Yanick J. Crow, R. Morgan, Emma Hobson

    Izdano 2007
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  13. 13
    Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS

    Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS od Jillian P. Casey, Suzanne Slattery, Melanie Cotter, Ahmad Monavari, Ina Knerr, Joanne Hughes, Eileen P. Treacy, D. Devaney, Michael McDermott, Eoghan Laffan, Derek A. Wong, Sally Ann Lynch, Billy Bourke, Ellen Crushell

    Izdano 2015
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  14. 14
    NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families

    NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families od Maryam Al Shehhi, Eva Forman, Jacqueline Fitzgerald, Veronica McInerney, Janusz Krawczyk, Sanbing Shen, David R. Betts, Linda Mc Ardle, Kathleen M. Gorman, Mary D. King, Andrew Green, Louise Gallagher, Sally Ann Lynch

    Izdano 2018
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  15. 15
    Addressing diagnostic gaps and priorities of the global rare diseases community: Recommendations from the IRDiRC diagnostics scientific committee

    Addressing diagnostic gaps and priorities of the global rare diseases community: Recommendations from the IRDiRC diagnostics scientific committee od David R. Adams, Clara D. van Karnebeek, Sergi Beltrán, Víctor Faúndes, Saumya Shekhar Jamuar, Sally Ann Lynch, Guillem Pintos‐Morell, Ratna Dua Puri, Ruty Mehrian‐Shai, Charles A. Steward, Birutė Tumienė, Alain Verloès

    Izdano 2024
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  16. 16
    Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects

    Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects od Jillian P. Casey, Kieran Brennan, Noémie Scheidel, Paul McGettigan, Paul TM Lavin, Stephen P. Carter, Sean Ennis, Huw Dorkins, Neeti Ghali, Oliver E. Blacque, Margaret M. Mc Gee, Helen Murphy, Sally Ann Lynch

    Izdano 2016
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  17. 17
    The Coffin–Siris syndrome: A proposed diagnostic approach and assessment of 15 overlapping cases

    The Coffin–Siris syndrome: A proposed diagnostic approach and assessment of 15 overlapping cases od Samantha A. Schrier, Joann Bodurtha, Barbara K. Burton, Albert E. Chudley, Mary Anne D. Chiong, M D'Avanzo, Sally Ann Lynch, Antonio Musio, Dmitriy M. Nyazov, Pedro A. Sanchez‐Lara, Stavit A. Shalev, Matthew A. Deardorff

    Izdano 2012
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  18. 18
    Mutations in the Gene Encoding Filamin A as a Cause for Familial Cardiac Valvular Dystrophy

    Mutations in the Gene Encoding Filamin A as a Cause for Familial Cardiac Valvular Dystrophy od Florence Kyndt, Jean-Pierre Gueffet, Vincent Probst, Philippe Jaafar, Antoine Legendre, Françoise Le Bouffant, Claire Toquet, Estelle Roy, Lesley McGregor, Sally Ann Lynch, Ruth Newbury-Ecob, Vinh Tran, Ian Young, Jean‐Noël Trochu, Hervé Le Marec, Jean‐Jacques Schott

    Izdano 2006
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  19. 19
    Genotypes and Phenotypes of 162 Families with a &lt;b&gt;&lt;i&gt;Glomulin&lt;/i&gt;&lt;/b&gt; Mutation

    Genotypes and Phenotypes of 162 Families with a &lt;b&gt;&lt;i&gt;Glomulin&lt;/i&gt;&lt;/b&gt; Mutation od Pascal Brouillard, Laurence M. Boon, Nicole Revençu, J. Berg, A. Dompmartin, Josée Dubois, Maria C. Garzón, Simon Holden, Loshan Kangesu, Christine Labrèze, Sally Ann Lynch, C McKeown, Raimundas Meškauskas, I. Quéré, Samira Syed, P. Vabres, Michel Wassef, John B. Mulliken, Miikka Vikkula

    Izdano 2013
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  20. 20
    First implication of<i>STRA6</i>mutations in isolated anophthalmia, microphthalmia, and coloboma: A new dimension to the<i>STRA6</i>phenotype

    First implication of<i>STRA6</i>mutations in isolated anophthalmia, microphthalmia, and coloboma: A new dimension to the<i>STRA6</i>phenotype od Jillian P. Casey, Riki Kawaguchi, Maria E. Morrissey, Hui Sun, Paul McGettigan, Jens Erik Nielsen, Judith Conroy, Regina Regan, Elaine Kenny, Paul Cormican, Derek W. Morris, Peter Tormey, Muireann Ní Chróinín, Breandán N. Kennedy, Sally Ann Lynch, Andrew Green, Sean Ennis

    Izdano 2011
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