Hasil Pencarian - Jose Bernardo Quintos

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  1. 1
    Severe Dental Disease as a Presenting Sign of Relapsed 6q24-Related Transient Neonatal Diabetes Mellitus

    Severe Dental Disease as a Presenting Sign of Relapsed 6q24-Related Transient Neonatal Diabetes Mellitus oleh Anna Delamerced, Lauren J. Massingham, Jose Bernardo Quintos

    Diterbitkan 2020-01-01
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  2. 2
    Systemic Pseudohypoaldosteronism Type I: A Case Report and Review of the Literature

    Systemic Pseudohypoaldosteronism Type I: A Case Report and Review of the Literature oleh Nasifa Nur, Cameron Lang, Juanita K. Hodax, Jose Bernardo Quintos

    Diterbitkan 2017-01-01
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  3. 3
    Hypogonadotropic Hypogonadism and Kleefstra Syndrome due to a Pathogenic Variant in the EHMT1 Gene: An Underrecognized Association

    Hypogonadotropic Hypogonadism and Kleefstra Syndrome due to a Pathogenic Variant in the EHMT1 Gene: An Underrecognized Association oleh Ana Patricia Torga, Juanita Hodax, Mari Mori, Jennifer Schwab, Jose Bernardo Quintos

    Diterbitkan 2018-01-01
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  4. 4
    Lack of Catch-Up Growth with Growth Hormone Treatment in a Child Born Small for Gestational Age Leading to a Diagnosis of Noonan Syndrome with a Pathogenic PTPN11 Variant

    Lack of Catch-Up Growth with Growth Hormone Treatment in a Child Born Small for Gestational Age Leading to a Diagnosis of Noonan Syndrome with a Pathogenic PTPN11 Variant oleh Daniel J. Olivieri, Lauren J. Massingham, Jennifer L. Schwab, Jose Bernardo Quintos

    Diterbitkan 2021-01-01
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  5. 5
    Resistance to Thyroid Hormone Beta in a Patient Born to a Mother With Undiagnosed Graves’ Disease

    Resistance to Thyroid Hormone Beta in a Patient Born to a Mother With Undiagnosed Graves’ Disease oleh Sujatha Seetharaman, MD, MPH, Jose Bernardo Quintos, MD, Federico Salas-Lucia, PhD

    Diterbitkan 2023-05-01
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  6. 6
    Severe Short Stature in an Adolescent Male with Prader-Willi Syndrome and Congenital Adrenal Hyperplasia: A Therapeutic Conundrum

    Severe Short Stature in an Adolescent Male with Prader-Willi Syndrome and Congenital Adrenal Hyperplasia: A Therapeutic Conundrum oleh Meredith Wasserman, Erin M. Mulvihill, Angela Ganan-Soto, Serife Uysal, Jose Bernardo Quintos

    Diterbitkan 2017-01-01
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  7. 7
    Normal Adult Height in an Untreated Boy With McCune-Albright Syndrome Presenting With Precocious Puberty

    Normal Adult Height in an Untreated Boy With McCune-Albright Syndrome Presenting With Precocious Puberty oleh Ugen Lhamu, MD, Sabitha Sasidharan Pillai, MD, Anna Delamerced, MD, Jose Bernardo Quintos, MD

    Diterbitkan 2023-05-01
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  8. 8
    Aggrecan is required for chondrocyte differentiation in ATDC5 chondroprogenitor cells.

    Aggrecan is required for chondrocyte differentiation in ATDC5 chondroprogenitor cells. oleh Juanita K Hodax, Jose Bernardo Quintos, Philip A Gruppuso, Qian Chen, Salomi Desai, Chathuraka T Jayasuriya

    Diterbitkan 2019-01-01
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  9. 9
    Hypolipidemia due to Familial Hypobetalipoproteinemia in Adolescents

    Hypolipidemia due to Familial Hypobetalipoproteinemia in Adolescents oleh Sabitha Sasidharan Pillai, MD, Meghan E. Fredette, MD, Jose Bernardo Quintos, MD, Lisa Swartz Topor, MD, MMSc

    Diterbitkan 2024-07-01
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  10. 10
    Noonan Syndrome and Celiac Disease in an Adolescent With Short Stature and Delayed Puberty

    Noonan Syndrome and Celiac Disease in an Adolescent With Short Stature and Delayed Puberty oleh Justin Lee, BA, Sabitha Sasidharan Pillai, MD, Avani Ganta, MD, Chanika Phornphutkul, MD, Jose Bernardo Quintos, MD

    Diterbitkan 2024-09-01
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  11. 11
    The Incidence of Erosive Esophagitis as a Complication of Pediatric Diabetic Ketoacidosis

    The Incidence of Erosive Esophagitis as a Complication of Pediatric Diabetic Ketoacidosis oleh Sungeeta Agrawal, Serife Uysal, Meghan Fredette, Lisa Swartz Topor, Shara R. Bialo, Michael Herzlinger, Jason Shapiro, Linda K. Snelling, Charlotte M. Boney, Jose Bernardo Quintos

    Diterbitkan 2021-01-01
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  12. 12
    Novel XRCC4 Mutations in an Infant With Microcephalic Primordial Dwarfism, Dilated Cardiomyopathy, Subclinical Hypothyroidism, and Early Death: Expanding the Phenotype Of XRCC4 Mutations

    Novel XRCC4 Mutations in an Infant With Microcephalic Primordial Dwarfism, Dilated Cardiomyopathy, Subclinical Hypothyroidism, and Early Death: Expanding the Phenotype Of XRCC4 Mut... oleh Meghan E. Fredette, MD, Kristin C. Lombardi, MD, Angela L. Duker, MS, LCGC, Catherine O. Buck, MD, Chanika Phornphutkul, MD, Michael B. Bober, MD, PhD, Jose Bernardo Quintos, MD

    Diterbitkan 2020-01-01
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