檢索結果 - John A. Phillips

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  1. 1
    ANGIOMA OF THE LARYNX, ESPECIALLY ITS RELATION TO CHRONIC LARYNGITIS

    ANGIOMA OF THE LARYNX, ESPECIALLY ITS RELATION TO CHRONIC LARYNGITIS 由 John A. Phillips

    出版 1913
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  2. 2
    DNA restriction endonuclease analysis for localization of human beta- and delta-globin genes on chromosome 11.

    DNA restriction endonuclease analysis for localization of human beta- and delta-globin genes on chromosome 11. 由 Alan F. Scott, John A. Phillips, Barbara R. Migeon

    出版 1979
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  3. 3
    An Exon Splice Enhancer Mutation Causes Autosomal Dominant GH Deficiency

    An Exon Splice Enhancer Mutation Causes Autosomal Dominant GH Deficiency 由 Chanda T. Moseley, Primus E. Mullis, Melissa Prince, John A. Phillips

    出版 2002
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  4. 4
    Molecular basis of human growth hormone gene deletions.

    Molecular basis of human growth hormone gene deletions. 由 Cindy L. Vnencak‐Jones, John A. Phillips, E Y Chen, P. H. Seeburg

    出版 1988
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  5. 5
    Patterns of polymorphism and linkage disequilibrium suggest independent origins of the human growth hormone gene cluster.

    Patterns of polymorphism and linkage disequilibrium suggest independent origins of the human growth hormone gene cluster. 由 Aravinda Chakravarti, John A. Phillips, Kenneth H. Mellits, Kenneth H. Buetow, P. H. Seeburg

    出版 1984
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  6. 6
    Dopamine beta-hydroxylase deficiency. A genetic disorder of cardiovascular regulation.

    Dopamine beta-hydroxylase deficiency. A genetic disorder of cardiovascular regulation. 由 David Robertson, Virginia Haile, S E Perry, Rose Marie Robertson, John A. Phillips, Italo Biaggioni

    出版 1991
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  7. 7
    Lessons learned: next-generation sequencing applied to undiagnosed genetic diseases

    Lessons learned: next-generation sequencing applied to undiagnosed genetic diseases 由 Bryce Schuler, Erica T. Nelson, Mary Koziura, Joy D. Cogan, Rizwan Hamid, John A. Phillips

    出版 2022
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  8. 8
    Genetic analysis of familial isolated growth hormone deficiency type I.

    Genetic analysis of familial isolated growth hormone deficiency type I. 由 John A. Phillips, John S. Parks, Brian Hjelle, J E Herd, Leslie Plotnick, Claude J. Migeon, P. H. Seeburg

    出版 1982
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  9. 9
    Decreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita

    Decreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita 由 Erin M. Parry, Jonathan K. Alder, Stella S. Lee, John A. Phillips, James E. Loyd, Priya Duggal, Mary Armanios

    出版 2011
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  10. 10
    Prenatal diagnosis of sickle cell anemia by restriction and endonuclease analysis: HindIII polymorphisms in gamma-globin genes extend test applicability.

    Prenatal diagnosis of sickle cell anemia by restriction and endonuclease analysis: HindIII polymorphisms in gamma-globin genes extend test applicability. 由 John A. Phillips, Susan R. Panny, H H Kazazian, C D Boehm, Alan F. Scott, Kirby D. Smith

    出版 1980
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  11. 11
    A Novel Mechanism of Aberrant Pre-mRNA Splicing in Humans

    A Novel Mechanism of Aberrant Pre-mRNA Splicing in Humans 由 Joy D. Cogan, Melissa Prince, Somsong Lekhakula, Sarah Bundey, Aree Futrakul, Eleanor M. S. McCarthy, John A. Phillips

    出版 1997
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  12. 12
    Mutation in the Gene for Bone Morphogenetic Protein Receptor II as a Cause of Primary Pulmonary Hypertension in a Large Kindred

    Mutation in the Gene for Bone Morphogenetic Protein Receptor II as a Cause of Primary Pulmonary Hypertension in a Large Kindred 由 John H. Newman, Lisa Wheeler, Kirk B. Lane, Emily Loyd, Radhika Gaddipati, John A. Phillips, James E. Loyd

    出版 2001
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  13. 13
    Identifying digenic disease genes via machine learning in the Undiagnosed Diseases Network

    Identifying digenic disease genes via machine learning in the Undiagnosed Diseases Network 由 Souhrid Mukherjee, Joy D. Cogan, John H. Newman, John A. Phillips, Rizwan Hamid, Jens Meiler, John A. Capra

    出版 2021
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  14. 14
    Penetrance of pulmonary arterial hypertension is modulated by the expression of normal<i>BMPR2</i>allele

    Penetrance of pulmonary arterial hypertension is modulated by the expression of normal<i>BMPR2</i>allele 由 Rizwan Hamid, Joy D. Cogan, Lora K. Hedges, Eric D. Austin, John A. Phillips, John H. Newman, James E. Loyd

    出版 2009
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  15. 15
    P450XXI (steroid 21-hydroxylase) gene deletions are not found in family studies of congenital adrenal hyperplasia.

    P450XXI (steroid 21-hydroxylase) gene deletions are not found in family studies of congenital adrenal hyperplasia. 由 Karla J. Matteson, John A. Phillips, W L Miller, Bon‐chu Chung, P J Orlando, H Frisch, Ángel Ferrández, Ian M. Burr

    出版 1987
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  16. 16
    High‐Altitude Pulmonary Hypertension in Cattle (Brisket Disease): Candidate Genes and Gene Expression Profiling of Peripheral Blood Mononuclear Cells

    High‐Altitude Pulmonary Hypertension in Cattle (Brisket Disease): Candidate Genes and Gene Expression Profiling of Peripheral Blood Mononuclear Cells 由 John H. Newman, Timothy N. Holt, Lora K. Hedges, Bethany Womack, Shafia S. Memon, Elisabeth D. Willers, Lisa Wheeler, John A. Phillips, Rizwan Hamid

    出版 2011
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  17. 17
    Two patients with ring chromosome 15 syndrome

    Two patients with ring chromosome 15 syndrome 由 Merlin G. Butler, Agnes B. Fogo, David A. Fuchs, Francis S. Collins, Viathilingam G. Dev, John A. Phillips, John M. Optiz, James F. Reynolds

    出版 1988
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  18. 18
    Gene expression in BMPR2 mutation carriers with and without evidence of Pulmonary Arterial Hypertension suggests pathways relevant to disease penetrance

    Gene expression in BMPR2 mutation carriers with and without evidence of Pulmonary Arterial Hypertension suggests pathways relevant to disease penetrance 由 James West, Joy D. Cogan, Mark W. Geraci, Linda Robinson, John H. Newman, John A. Phillips, Kirk B. Lane, Barbara Meyrick, James E. Loyd

    出版 2008
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  19. 19
    CB1 Expression Is Attenuated in Fallopian Tube and Decidua of Women with Ectopic Pregnancy

    CB1 Expression Is Attenuated in Fallopian Tube and Decidua of Women with Ectopic Pregnancy 由 Andrew W. Horne, John A. Phillips, Nicole Kane, Paula C. Lourenco, Sarah E. McDonald, Alistair Williams, Carlos Simón, Sudhansu K. Dey, Hilary Critchley

    出版 2008
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  20. 20
    Characterizing trends in clinical genetic testing: A single-center analysis of EHR data from 1.8 million patients over two decades

    Characterizing trends in clinical genetic testing: A single-center analysis of EHR data from 1.8 million patients over two decades 由 Lisa Bastarache, Rory J. Tinker, Bryce Schuler, Lucas Richter, John A. Phillips, William W. Stead, Gillian W. Hooker, Josh F. Peterson, Douglas M. Ruderfer

    出版 2025
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