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Items: 11

1.
Tibial plateau fracture and RNA sequencing with osteogenesis imperfecta: a case report
Yixiao Chen, Guoqing Li, Liangchen Wei, Jian Weng, Su Liu, Mingxi Gu, Pei Liu, Yuanchao Zhu, Ao Xiong, Hui Zeng, Fei Yu
Front Endocrinol (Lausanne) 2023; 14: 1164386. Published online 2023 May 9. doi: 10.3389/fendo.2023.1164386
PMCID:
PMC10203611
ArticlePDF–5.2M
2.
A novel de novo nonsense mutation in SALL4 causing duane radial ray syndrome: a case report and expanding the phenotypic spectrum
Mobarakeh Ajam-Hosseini, Farshid Parvini, Abdolhamid Angaji
BMC Med Genomics. 2023; 16: 33. Published online 2023 Feb 24. doi: 10.1186/s12920-023-01467-1
PMCID:
PMC9951407
ArticlePDF–2.0M
3.
Spondyloenchondrodysplasia.
H Menger, K Kruse, J Spranger
J Med Genet. 1989 Feb; 26(2): 93–99. doi: 10.1136/jmg.26.2.93
PMCID:
PMC1015557
SummaryPage BrowsePDF–1.8M
4.
Evidence That Smith-McCort Dysplasia and Dyggve-Melchior-Clausen Dysplasia Are Allelic Disorders That Result from Mutations in a Gene on Chromosome 18q12
Nadia Ehtesham, Rita M. Cantor, Lily M. King, Kent Reinker, Berkley R. Powell, Alan Shanske, Sheila Unger, David L. Rimoin, Daniel H. Cohn
Am J Hum Genet. 2002 Oct; 71(4): 947–951. Published online 2002 Aug 2. doi: 10.1086/342669
PMCID:
PMC378548
ArticlePDF–107K
5.
Expanding OBSL1 Mutation Phenotype: Disproportionate Short Stature, Barrel Chest, Thoracic Kyphoscoliosis, Hypogonadism, and Hypospadias
Mine Koprulu, Rana Muhammad Kamran Shabbir, Sara Mumtaz, Aslıhan Tolun, Sajid Malik
Yale J Biol Med. 2023 Sep; 96(3): 367–382. Published online 2023 Sep 29. doi: 10.59249/RLAU6003
PMCID:
PMC10524810
ArticlePDF–1.8M
6.
X-linked Spondyloepiphyseal Dysplasia Tarda with Mutation in TRAPPC2Gene: First Report from India
Parag M Tamhankar, Abhishek Kulkarni, Lakshmi Vasudevan
J Orthop Case Rep. 2020; 10(2): 1–4. doi: 10.13107/jocr.2020.v10.i02.1670
PMCID:
PMC7476708
ArticlePDF–1.2M
7.
Late diagnosis of total anomalous pulmonary venous drainage in a 5.5-month-old infant
Wojciech Mądry, Maciej A. Karolczak, Weronika Rygier, Radosław Kunikowski, Michał Buczyński, Danuta Roik
J Ultrason. 2019; 19(76): 75–79. Published online 2019 Mar 29. doi: 10.15557/JoU.2019.0012
PMCID:
PMC6750172
ArticlePDF–670K
8.
Physical signs in patients with chronic obstructive pulmonary disease
Malay Sarkar, Rajeev Bhardwaz, Irappa Madabhavi, Mitul Modi
Lung India. 2019 Jan-Feb; 36(1): 38–47. doi: 10.4103/lungindia.lungindia_145_18
PMCID:
PMC6330798
ArticlePDF–565K
9.
Ayurvedic management of spondyloepiphyseal dysplasia tarda, a rare hereditary disorder
Sarvesh Kumar Singh, Kshipra Rajoria
J Ayurveda Integr Med. 2016 Oct-Dec; 7(4): 249–254. Published online 2016 Nov 25. doi: 10.1016/j.jaim.2016.10.002
PMCID:
PMC5192282
ArticlePDF–1.2M
10.
Asthma and chronic bronchitis. Can family physicians predict rates of progression?
C. P. van Schayck, E. Dompeling, R. Putters, J. Molema, C. van Weel
Can Fam Physician. 1995 Nov; 41: 1868–1876.
PMCID:
PMC2146732
SummaryPage BrowsePDF–2.1M
11.
Chest Deformity, Residual Airways Obstruction and Hyperinflation, and Growth in Children with Asthma: II: Significance of Chronic Chest Deformity
G. L. Gillam, K. N. McNicol, H. E. Williams
Arch Dis Child. 1970 Dec; 45(244): 789–799. doi: 10.1136/adc.45.244.789
PMCID:
PMC1647410
SummaryPage BrowsePDF–1.8M

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