Hasil Pencarian - Andrea Gropman

Perbaiki Hasil
  1. 1
    Patients with urea cycle disorder struggle when driving: A functional near-infrared spectroscopy review

    Patients with urea cycle disorder struggle when driving: A functional near-infrared spectroscopy review oleh Kosar Khaksari, Christine Deng, Sasha Santiago, Andrea Gropman

    Diterbitkan 2023-11-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  2. 2
    P324: A comprehensive investigation in the anthropomorphic measurements of males with 47,XXY (Klinefelter syndrome) from 6-18 years

    P324: A comprehensive investigation in the anthropomorphic measurements of males with 47,XXY (Klinefelter syndrome) from 6-18 years oleh Alexa Taylor, Andrea Gropman, Teresa Sadeghin, Carole Samango-Sprouse

    Diterbitkan 2023-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  3. 3
    P300: Importance of neuromonitoring during acute crises in small molecule and energy deficiency neurometabolic disorders: Data over 10 years

    P300: Importance of neuromonitoring during acute crises in small molecule and energy deficiency neurometabolic disorders: Data over 10 years oleh Kuntal Sen, Nicole Pariseau, Anqing Zhang, Dana Harrar, Andrea Gropman

    Diterbitkan 2023-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  4. 4
    P414: Comorbidity of two uncommon chromosomal disorders: First reported case of 49,XXXXY and Cornelia de Lange syndrome

    P414: Comorbidity of two uncommon chromosomal disorders: First reported case of 49,XXXXY and Cornelia de Lange syndrome oleh Carole Samango-Sprouse, Margaret Olaya, Kara Schmidt, Teresa Sadeghin, Andrea Gropman

    Diterbitkan 2024-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  5. 5
    Bridging Translational Research to Clinical Research Provides Therapeutic Opportunities to Patients with a Primary Mitochondrial Disease

    Bridging Translational Research to Clinical Research Provides Therapeutic Opportunities to Patients with a Primary Mitochondrial Disease oleh Martine Uittenbogaard, Ph.D., Andrea Gropman, M.D., Anne Chiaramello, Ph.D.

    Diterbitkan 2024-07-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  6. 6
    Editorial: New Therapeutic Options for Rare Diseases

    Editorial: New Therapeutic Options for Rare Diseases oleh Sascha Meyer, E. Ann Yeh, Jürgen Brunner, Jürgen Brunner, Oliver Semler, Andrea Gropman

    Diterbitkan 2022-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  7. 7
    P056: Heightened cerebral blood oxygenation changes during a cognitive task in Glut1 deficiency syndrome (G1D)

    P056: Heightened cerebral blood oxygenation changes during a cognitive task in Glut1 deficiency syndrome (G1D) oleh Andrea Gropman, Kosar Khaksari, Wei-Liang Chen, Sharon Primeaux, Adrian Avila, Juan Pascual

    Diterbitkan 2024-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  8. 8
    P288: A comprehensive investigation of the anthropomorphic measurements in males with 47, XXY and the impact of early hormonal treatment (EHT)

    P288: A comprehensive investigation of the anthropomorphic measurements in males with 47, XXY and the impact of early hormonal treatment (EHT) oleh Carole Samango-Sprouse, Alexa Taylor, Debra Counts, Teresa Sadeghin, Lindsey Lang, Andrea Gropman

    Diterbitkan 2023-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  9. 9
    Hemodynamics of Prefrontal Cortex in Ornithine Transcarbamylase Deficiency: A Twin Case Study

    Hemodynamics of Prefrontal Cortex in Ornithine Transcarbamylase Deficiency: A Twin Case Study oleh Afrouz A. Anderson, Andrea Gropman, Cynthia Le Mons, Constantine A. Stratakis, Amir H. Gandjbakhche

    Diterbitkan 2020-08-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  10. 10
    Molecular genetic and mitochondrial metabolic analyses confirm the suspected mitochondrial etiology in a pediatric patient with an atypical form of alternating hemiplegia of childhood

    Molecular genetic and mitochondrial metabolic analyses confirm the suspected mitochondrial etiology in a pediatric patient with an atypical form of alternating hemiplegia of childh... oleh Andrea Gropman, Martine Uittenbogaard, Christine A. Brantner, Yue Wang, Lee-Jun Wong, Anne Chiaramello

    Diterbitkan 2020-09-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  11. 11
    P024: Role of muscle biopsy and exome re-analysis in a mystery case of lactic acidosis

    P024: Role of muscle biopsy and exome re-analysis in a mystery case of lactic acidosis oleh Elizabeth Pickup, Kuntal Sen, Steven Moore, Pim Suwannarat, Christina Grant, Nicholas Ah Mew, Andrea Gropman

    Diterbitkan 2024-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  12. 12
    Case Report: Infant With Congenital Adrenal Hyperplasia and 47,XXY

    Case Report: Infant With Congenital Adrenal Hyperplasia and 47,XXY oleh Sophia Q. Song, Andrea Gropman, Andrea Gropman, Robert W. Benjamin, Francie Mitchell, Michaela R. Brooks, Mary P. Hamzik, Kira Sampson, Ritika Kommareddi, Teresa Sadeghin, Carole A. Samango-Sprouse, Carole A. Samango-Sprouse, Carole A. Samango-Sprouse

    Diterbitkan 2022-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  13. 13
    P224: An exploration of the neurodevelopmental phenotype of two patients with 48,XXYY during infancy

    P224: An exploration of the neurodevelopmental phenotype of two patients with 48,XXYY during infancy oleh Lindsey Lang, Andrea Gropman, Debra Counts, Antonie Kline, Francie Mitchell, Elizabeth Buscema, Teresa Sadeghin, Carole Samango-Sprouse

    Diterbitkan 2023-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  14. 14
    P204: Primary care electronic medical record features predicting genetics referrals

    P204: Primary care electronic medical record features predicting genetics referrals oleh Cristal Hernandez Hernandez, Nhat Duong, Andrea Cohen, Elmer Rajah, Eric Vilain, Daniel Felten, Andrea Gropman, Seth Berger

    Diterbitkan 2024-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  15. 15
    Genetic and Mitochondrial Metabolic Analyses of an Atypical Form of Leigh Syndrome

    Genetic and Mitochondrial Metabolic Analyses of an Atypical Form of Leigh Syndrome oleh Martine Uittenbogaard, Kuntal Sen, Matthew Whitehead, Christine A. Brantner, Yue Wang, Lee-Jun Wong, Andrea Gropman, Anne Chiaramello

    Diterbitkan 2021-12-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  16. 16
    Incidence of X and Y Chromosomal Aneuploidy in a Large Child Bearing Population.

    Incidence of X and Y Chromosomal Aneuploidy in a Large Child Bearing Population. oleh Carole Samango-Sprouse, Eser Kırkızlar, Megan P Hall, Patrick Lawson, Zachary Demko, Susan M Zneimer, Kirsten J Curnow, Susan Gross, Andrea Gropman

    Diterbitkan 2016-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  17. 17
    Role of Diffusion Tensor Imaging in Prognostication and Treatment Monitoring in Niemann-Pick Disease Type C1

    Role of Diffusion Tensor Imaging in Prognostication and Treatment Monitoring in Niemann-Pick Disease Type C1 oleh Meghann W. Lau, Ryan W. Lee, Robin Miyamoto, Eun Sol Jung, Nicole Yanjanin Farhat, Shoko Yoshida, Susumu Mori, Andrea Gropman, Eva H. Baker, Forbes D. Porter

    Diterbitkan 2016-09-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  18. 18
    P567: Innovations in education: Empowering child neurology residents with basic concepts in genomic testing through a national curriculum

    P567: Innovations in education: Empowering child neurology residents with basic concepts in genomic testing through a national curriculum oleh Kuntal Sen, Amitha Ananth, Rachel Gottlieb-Smith, Daniel Calalme, Jeffrey Strelzik, Kristin Baranano, Lisa Emrick, Julie Ziobro, Christa Habela, Margie Ream, Divakar Mithal, Andrea Gropman, Louis Dang

    Diterbitkan 2024-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  19. 19
    P007: PP4 criteria specifications for proximal urea cycle disorders*

    P007: PP4 criteria specifications for proximal urea cycle disorders* oleh Kara Simpson, Nicholas Ah Mew, Ljubica Caldovic, Annette Feigenbaum, Raquel Fernandez, Emily Groopman, Andrea Gropman, Emily Kudalkar, Uta Lichter-Konecki, McKenna Kyriss, Elaine Spector, Meredith Weaver, Manya Warrier, Diane Zastrow, Amanda Thomas-Wilson

    Diterbitkan 2024-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  20. 20
    Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature

    Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature oleh Jessica R.C. Priestley, Lisa M. Pace, Kuntal Sen, Anjali Aggarwal, Cesar Augusto P.F. Alves, Ian M. Campbell, Sanmati R. Cuddapah, Nicole M. Engelhardt, Marina Eskandar, Paloma C. Jolín García, Andrea Gropman, Ingo Helbig, Xinying Hong, Vykuntaraju K. Gowda, Laina Lusk, Pamela Trapane, Varunvenkat M. Srinivasan, Pim Suwannarat, Rebecca D. Ganetzky

    Diterbitkan 2022-12-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:

Alat Pencarian: