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primary dwarf 相关文献:
Efficacy and Safety of Weekly Somatrogon vs Daily Somatropin in Children With Growth Hormone Deficiency: A Phase 3 Study.
Deal CL, Steelman J, Vlachopapadopoulou E, Stawerska R, Silverman LA, Phillip M, Kim HS, Ko C, Malievskiy O, Cara JF, Roland CL, Taylor CT, Valluri SR, Wajnrajch MP, Pastrak A, Miller BS.
J Clin Endocrinol Metab. 2022 Jun 16;107(7):e2717-e2728. doi: 10.1210/clinem/dgac220.
PMID:35405011
Genomic and phenotypic delineation of congenital microcephaly.
Shaheen R, Maddirevula S, Ewida N, Alsahli S, Abdel-Salam GMH, Zaki MS, Tala SA, Alhashem A, Softah A, Al-Owain M, Alazami AM, Abadel B, Patel N, Al-Sheddi T, Alomar R, Alobeid E, Ibrahim N, Hashem M, Abdulwahab F, Hamad M, Tabarki B, Alwadei AH, Alhazzani F, Bashiri FA, Kentab A, Şahintürk S, Sherr E, Fregeau B, Sogati S, Alshahwan SAM, Alkhalifi S, Alhumaidi Z, Temtamy S, Aglan M, Otaify G, Girisha KM, Tulbah M, Seidahmed MZ, Salih MA, Abouelhoda M, Momin AA, Saffar MA, Partlow JN, Arold ST, Faqeih E, Walsh C, Alkuraya FS.
Genet Med. 2019 Mar;21(3):545-552. doi: 10.1038/s41436-018-0140-3. Epub 2018 Sep 14.
PMID:30214071
Thyroid Disorders in Children and Adolescents: A Review.
Hanley P, Lord K, Bauer AJ.
JAMA Pediatr. 2016 Oct 1;170(10):1008-1019. doi: 10.1001/jamapediatrics.2016.0486.
PMID:27571216
Weekly Somapacitan is Effective and Well Tolerated in Children With GH Deficiency: The Randomized Phase 3 REAL4 Trial.
Miller BS, Blair JC, Rasmussen MH, Maniatis A, Kildemoes RJ, Mori J, Polak M, Bang RB, Böttcher V, Stagi S, Horikawa R.
J Clin Endocrinol Metab. 2022 Nov 25;107(12):3378-3388. doi: 10.1210/clinem/dgac513.
PMID:36062966
Weekly Lonapegsomatropin in Treatment-Naïve Children With Growth Hormone Deficiency: The Phase 3 heiGHt Trial.
Thornton PS, Maniatis AK, Aghajanova E, Chertok E, Vlachopapadopoulou E, Lin Z, Song W, Christoffersen ED, Breinholt VM, Kovalenko T, Giorgadze E, Korpal-Szczyrska M, Hofman PL, Karpf DB, Shu AD, Beckert M.
J Clin Endocrinol Metab. 2021 Oct 21;106(11):3184-3195. doi: 10.1210/clinem/dgab529.
PMID:34272849
Once-weekly Somapacitan is Effective and Well Tolerated in Adults with GH Deficiency: A Randomized Phase 3 Trial.
Johannsson G, Gordon MB, Højby Rasmussen M, Håkonsson IH, Karges W, Sværke C, Tahara S, Takano K, Biller BMK.
J Clin Endocrinol Metab. 2020 Apr 1;105(4):e1358-76. doi: 10.1210/clinem/dgaa049.
PMID:32022863
Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.
Merico D, Roifman M, Braunschweig U, Yuen RK, Alexandrova R, Bates A, Reid B, Nalpathamkalam T, Wang Z, Thiruvahindrapuram B, Gray P, Kakakios A, Peake J, Hogarth S, Manson D, Buncic R, Pereira SL, Herbrick JA, Blencowe BJ, Roifman CM, Scherer SW.
Nat Commun. 2015 Nov 2;6:8718. doi: 10.1038/ncomms9718.
PMID:26522830
Newborn screening for primary congenital hypothyroidism: past, present and future.
Grob F, Lain S, Olivieri A.
Eur Thyroid J. 2025 Mar 3;14(2):e240358. doi: 10.1530/ETJ-24-0358. Print 2025 Apr 1.
PMID:40029014
Primary immunodeficiency.
Rosen FS.
Pediatr Clin North Am. 1974 Aug;21(3):533-49. doi: 10.1016/s0031-3955(16)33023-1.
PMID:4137895
Growth hormone treatment for growth hormone deficiency and idiopathic short stature: new guidelines shaped by the presence and absence of evidence.
Grimberg A, Allen DB.
Curr Opin Pediatr. 2017 Aug;29(4):466-471. doi: 10.1097/MOP.0000000000000505.
PMID:28525404
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