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1 . Academic Journal
Resistance to thyroid hormone caused by a mutation in thyroid hormone receptor (TR)α1 and TRα2: clinical, biochemical, and genetic analyses of three related patients
저자
by
Moran, Carla
;
Agostini, Maura
;
Visser, W Edward
;
Schoenmakers, Erik
;
Schoenmakers, Nadia
, et al.
소스
In
The Lancet Diabetes & Endocrinology
August 2014 2(8):619-626
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7 . Academic Journal
The effect of selective ultrasound screening on the incidence of late presentation of developmental hip dysplasia—a meta-analysis.
저자
by
Laborie, Lene B
;
Rosendahl, Karen
;
Dhouib, Amira
;
Simoni, Paolo
;
Tomà, Paolo
, et al.
소스
Pediatric Radiology
(PEDIATR RADIOL), Sep2023; 53(10): 1977-1988. (12p)
EBSCOHost PDF
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7 . Academic Journal
Post-mortem examination of human fetuses: a comparison of whole-body high-field MRI at 9·4 T with conventional MRI and invasive autopsy
저자
by
Thayyil, Sudhin
;
Cleary, Jon O
;
Sebire, Neil J
;
Scott, Rosemary J
;
Chong, Kling
, et al.
소스
In
The Lancet
8-14 August 2009 374(9688):467-475
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7 . Conference
An investigation of relationship between bone vibration frequency and its mass-volume ratio
저자
by
Razaghi, Hajar
;
Saatchi, Reza
;
Burke, Derek
;
Offiah, Amaka C
.
소스
2014 IEEE International Conference on Acoustics, Speech and Signal Processing (ICASSP) Acoustics, Speech and Signal Processing (ICASSP), 2014 IEEE International Conference on. :3616-3620 May, 2014
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6 . Periodical
Conclusion of diagnostic odysseys due to inversions disrupting GLI3and FBN1
저자
by
Pagnamenta, Alistair T
;
Yu, Jing
;
Evans, Julie
;
Twiss, Philip
;
Offiah, Amaka C
, et al.
소스
Journal of Medical Genetics (JMG); 2023, Vol. 60 Issue: 5 p505-510, 6p
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7 . Periodical
Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project
저자
by
Moore, A Rachel
;
Yu, Jing
;
Pei, Yang
;
Cheng, Emily W Y
;
Taylor Tavares, Ana Lisa
, et al.
소스
Journal of Medical Genetics (JMG); 2023, Vol. 60 Issue: 12 p1235-1244, 10p
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7 . Primary Source
European Society of Paediatric Radiology (ESPR) Child Abuse Taskforce Committee: a response to Miller et al.
저자
by
Paddock, Michael
;
Adamsbaum, Catherine
;
Barber, Ignasi
;
Raissaki, Maria
;
van Rijn, Rick
, et al.
소스
Journal of Pediatric Endocrinology and Metabolism
. 33(7):941-944
Full Text(De Gruyter)
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7 . Periodical
Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia
저자
by
Díaz-González, Francisca
;
Wadhwa, Saruchi
;
Rodriguez-Zabala, Maria
;
Kumar, Somesh
;
Aza-Carmona, Miriam
, et al.
소스
Journal of Medical Genetics (JMG); 2022, Vol. 59 Issue: 1 p28-38, 11p
Full Text (BMJ Journals)
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7 . Periodical
Rate and severity of radiological features of physical abuse in children during the first UK-wide COVID-19 enforced national lockdown
저자
by
Stivaros, Stavros
;
Paddock, Michael
;
Rajai, Azita
;
Cliffe, Helen
;
Connolly, Daniel JA
, et al.
소스
Archives of Disease in Childhood; 2022, Vol. 107 Issue: 6 p575-581, 7p
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7 . Periodical
Expanding the phenotype of SPARC-related osteogenesis imperfecta: clinical findings in two patients with pathogenic variants in SPARCand literature review
저자
by
Durkin, Anna
;
DeVile, Catherine
;
Arundel, Paul
;
Bull, Mary
;
Walsh, Jennifer
, et al.
소스
Journal of Medical Genetics (JMG); 2022, Vol. 59 Issue: 8 p810-816, 7p
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