Search Results - "dwarfism"

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  1. 81
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    Comparison of growth hormone stimulation tests in prepubertal children with short stature according to response to growth hormone replacement by Seong Hwan Chang, Chan Jong Kim

    Published 2024
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  2. 82
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    Achondroplasia in Latin America: practical recommendations for the multidisciplinary care of pediatric patients by Juan Llerena, Chong Ae Kim, Virginia Fano, Pablo Rosselli, Paulo Ferrez Collett-Solberg, Paula Frassinetti Vasconcelos de Medeiros, Mariana del Pino, Débora Bertola, Charles Marques Lourenço, Denise Pontes Cavalcanti, Têmis Maria Félix, Antonio Rosa-Bellas, Norma Teresa Rossi, Fanny Cortes, Flávia Abreu, Nicolette Cavalcanti, Maria Cecilia Hervias Ruz, Wagner Baratela

    Published 2022
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  3. 83
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    Aicardi-Goutières syndrome with SAMHD1 deficiency can be diagnosed by unscheduled DNA synthesis test by Chikako Senju, Chikako Senju, Chikako Senju, Chikako Senju, Chikako Senju, Yuka Nakazawa, Yuka Nakazawa, Yuka Nakazawa, Mayuko Shimada, Mayuko Shimada, Mayuko Shimada, Dai Iwata, Dai Iwata, Michiko Matsuse, Katsumi Tanaka, Yasushi Miyazaki, Shinichi Moriwaki, Norisato Mitsutake, Tomoo Ogi, Tomoo Ogi, Tomoo Ogi

    Published 2022
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  4. 84
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    A Novel Mutation in ERCC8 Gene Causing Cockayne Syndrome by Maryam Taghdiri, Maryam Taghdiri, Hassan Dastsooz, Majid Fardaei, Majid Fardaei, Majid Fardaei, Sanaz Mohammadi, Mohammad Ali Farazi Fard, Mohammad Ali Faghihi

    Published 2017
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  5. 85
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    Reliability of Agreement between Insulin, Clonidine, and Glucagon Stimulation Tests for the Diagnosis of Growth Hormone Deficiency in Children: A Retrospective Cohort Study by Rana Al Balwi, Mohammad Al-Qahtani, Amani K. Alrowished, Hwazen A. Shash, Reem Alatrash, Alanoud Alhareth, Roba Aldossary, Maha Alahmari, Yara Hejazi, Alia Alammari, Sarah AlShawaf, Rawan Al Balwi, Suzan AlKhater

    Published 2023
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  6. 86
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    Retardo do crescimento e condições sociais em escolares de Osasco, São Paulo, Brasil by Doris Lucia Martini Lei, Isabel Cristina de Freitas, Sandra Pinheiro Chaves, Barbara Regina Lerner, Maria Lucia Rosa Stefanini

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  7. 87
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    Identification of SOFT syndrome caused by a pathogenic homozygous splicing variant of POC1A: a case report by Guoqiang Li, Guoying Chang, Chen Wang, Tingting Yu, Niu Li, Xiaodong Huang, Xiumin Wang, Jian Wang, Jiwen Wang, Ruen Yao

    Published 2021
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  8. 88
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    Clinical and radiological findings of incidental Rathke's cleft cysts in children and adolescents by Yeon Joung Oh, Hong Kyu Park, Seung Yang, Jun Ho Song, Il Tae Hwang

    Published 2014
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  9. 89
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    Clinical characteristics and prognosis of steroid-resistant nephrotic syndrome in children: a multi-center retrospective study by Sheng Li, Chao He, Yu Sun, Jie Chen, Yunguang Liu, Zengpo Huang, Weifang Huang, Yongqiu Meng, Wenjing Liu, Xianqiang Lei, Rihong Zhao, Zihui Lin, Chunlin Huang, Fengying Lei, Yuanhan Qin

    Published 2024
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  10. 90
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    Melatonin Regulates Chloroplast Protein Quality Control via a Mitogen-Activated Protein Kinase Signaling Pathway by Hyoung Yool Lee, Kyoungwhan Back

    Published 2021
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  11. 91
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    The use of recombinant human growth hormone in patients with Mucopolysaccharidoses and growth hormone deficiency: a case series by A. Cattoni, S. Motta, N. Masera, S. Gasperini, A. Rovelli, R. Parini

    Published 2019
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  12. 92
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    New PCNT candidate missense variant in a patient with oral and maxillofacial osteodysplasia: a case report by Ken-ichi Aoyama, Minoru Kimura, Hiroshi Yamazaki, Masahiro Uchibori, Rena Kojima, Yuko Osawa, Kazuyoshi Hosomichi, Yoshihide Ota, Masayuki Tanaka, Shiro Yamada, Gen Nishimura

    Published 2019
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  13. 93
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    Efficacy of growth hormone therapy in adults with childhood-onset growth hormone deficiency by Ja Hye Kim, Ja Hyang Cho, Han-Wook Yoo, Jin-Ho Choi

    Published 2014
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  14. 94
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    The influence of pituitary volume on the growth response in growth hormone-treated children with growth hormone deficiency or idiopathic short stature by Jun Suk Oh, Beomseok Sohn, Youngha Choi, Kyungchul Song, Junghwan Suh, Ahreum Kwon, Ho-Seong Kim

    Published 2024
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  15. 95
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    A CLINICAL CASE OF OSTEOGENESIS IMPERFECT TYPE III, DETERMINED BY COL1A1 (P.GLY845ARG) GENE MUTATION IN A NEWBORN GIRL by І. Ластівка, В. Анцупова, А. Бабінцева, О. Юрків, Л. Брішевац, І. Малєєва

    Published 2022
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  16. 96
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    Detection of a de novo Y278C mutation in FGFR3 in a pregnancy with severe fetal hypochondroplasia: Prenatal diagnosis and literature review by Chih-Ping Chen, Yi-Ning Su, Tzu-Hung Lin, Tung-Yao Chang, Jun-Wei Su, Wayseen Wang

    Published 2013
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  17. 97
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    Allogeneic hematopoietic stem cell transplantation in two brothers with DNA ligase IV deficiency: a case report and review of the literature by Sarah Schober, Karin Schilbach, Michaela Doering, Karin M. Cabanillas Stanchi, Ursula Holzer, Patrick Kasteleiner, Jens Schittenhelm, Juergen F. Schaefer, Ingo Mueller, Peter Lang, Rupert Handgretinger

    Published 2019
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  18. 98
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    In Vivo Effects of a GHR Synthesis Inhibitor During Prolonged Treatment in Dogs by Elpetra P. M. Timmermans, Joëlle Blankevoort, Guy C. M. Grinwis, Sietske J. Mesu, Ronette Gehring, Patric J. D. Delhanty, Peter E. M. Maas, Ger J. Strous, Jan A. Mol

    Published 2024
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  19. 99
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    Growth hormone receptor-deficient pigs resemble the pathophysiology of human Laron syndrome and reveal altered activation of signaling cascades in the liver by Arne Hinrichs, Barbara Kessler, Mayuko Kurome, Andreas Blutke, Elisabeth Kemter, Maren Bernau, Armin M. Scholz, Birgit Rathkolb, Simone Renner, Sebastian Bultmann, Heinrich Leonhardt, Martin Hrabĕ de Angelis, Hiroshi Nagashima, Andreas Hoeflich, Werner F. Blum, Martin Bidlingmaier, Rüdiger Wanke, Maik Dahlhoff, Eckhard Wolf

    Published 2018
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  20. 100
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    Cartografia do retardo estatural em escolares do Estado da Paraíba, Brasil Schoolchildren statural deficit cartography in Paraíba State, Brazil by Alice T Carvalho, Maria JC Costa, Luiz OC Ferreira, Malaquias Batista Filho

    Published 2000
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