Bilaketaren emaitzak - "dwarfism"

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

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Achondroplasia in Latin America: practical recommendations for the multidisciplinary care of pediatric patients nork 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

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Aicardi-Goutières syndrome with SAMHD1 deficiency can be diagnosed by unscheduled DNA synthesis test nork 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

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A Novel Mutation in ERCC8 Gene Causing Cockayne Syndrome nork Maryam Taghdiri, Maryam Taghdiri, Hassan Dastsooz, Majid Fardaei, Majid Fardaei, Majid Fardaei, Sanaz Mohammadi, Mohammad Ali Farazi Fard, Mohammad Ali Faghihi

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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 nork 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

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

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

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

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Clinical characteristics and prognosis of steroid-resistant nephrotic syndrome in children: a multi-center retrospective study nork 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

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Melatonin Regulates Chloroplast Protein Quality Control via a Mitogen-Activated Protein Kinase Signaling Pathway nork Hyoung Yool Lee, Kyoungwhan Back

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

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

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Efficacy of growth hormone therapy in adults with childhood-onset growth hormone deficiency nork Ja Hye Kim, Ja Hyang Cho, Han-Wook Yoo, Jin-Ho Choi

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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 nork Jun Suk Oh, Beomseok Sohn, Youngha Choi, Kyungchul Song, Junghwan Suh, Ahreum Kwon, Ho-Seong Kim

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

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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 nork Chih-Ping Chen, Yi-Ning Su, Tzu-Hung Lin, Tung-Yao Chang, Jun-Wei Su, Wayseen Wang

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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 nork 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

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In Vivo Effects of a GHR Synthesis Inhibitor During Prolonged Treatment in Dogs nork 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

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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 nork 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

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

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