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Items: 1 to 20 of 23

1.
New splicing pathogenic variant in EBP causing extreme familial variability of Conradi–Hünermann–Happle Syndrome
Mathilde Pacault, Marie Vincent, Thomas Besnard, Caroline Kannengiesser, Claire Bénéteau, Sébastien Barbarot, Xénia Latypova, Khaldia Belabbas, Antonin Lamazière, Norbert Winer, Madeleine Joubert, Stéphane Bézieau, Bertrand Isidor, Sandra Mercier, Mathilde Nizon, Stéphanie Leclerc-Mercier, Smail Hadj-Rabia, Fabienne Dufernez
Eur J Hum Genet. 2018 Dec; 26(12): 1784–1790. Published online 2018 Aug 22. doi: 10.1038/s41431-018-0217-0
PMCID:
PMC6244079
AbstractArticlePDF–712K
2.
Abnormal primary and permanent dentitions with ectodermal symptoms predict WNT10A deficiency
Birgitta Bergendal, Johanna Norderyd, Xiaolei Zhou, Joakim Klar, Niklas Dahl
BMC Med Genet. 2016; 17: 88. Published online 2016 Nov 24. doi: 10.1186/s12881-016-0349-4
PMCID:
PMC5122154
AbstractArticlePDF–1.4M
3.
Mammalian keratin associated proteins (KRTAPs) subgenomes: disentangling hair diversity and adaptation to terrestrial and aquatic environments
Imran Khan, Emanuel Maldonado, Vítor Vasconcelos, Stephen J O’Brien, Warren E Johnson, Agostinho Antunes
BMC Genomics. 2014; 15(1): 779. Published online 2014 Sep 10. doi: 10.1186/1471-2164-15-779
PMCID:
PMC4180150
AbstractArticlePDF–3.7M
4.
A Scottish family with Bazex-Dupré-Christol syndrome: follicular atrophoderma, congenital hypotrichosis, and basal cell carcinoma.
A Kidd, L Carson, D W Gregory, D de Silva, J Holmes, J C Dean, N Haites
J Med Genet. 1996 Jun; 33(6): 493–497. doi: 10.1136/jmg.33.6.493
PMCID:
PMC1050636
SummaryPage BrowsePDF–1.8M
5.
Identification of N6-Methyladenosine-Related Factors and the Prediction of the Regulatory Mechanism of Hair Follicle Development in Rex and Hycole Rabbits
Gang Luo, Ruiguang Gong, Yaotian Ai, Tongyan Zhu, Zhanjun Ren
Biology (Basel) 2023 Nov; 12(11): 1448. Published online 2023 Nov 17. doi: 10.3390/biology12111448
PMCID:
PMC10669094
AbstractArticlePDF–9.5M
6.
A Novel Mutation in the NAGLU (N-Acetyl-Alpha-Glucosaminidase) Gene Associated With Mucopolysaccharidosis Type III-B in a Saudi Girl
Rawia F Albar, Rahaf A AlQurashi, Nada Naaman, Atheer Alghamdi, Sara K Alghamdi, Khulud Aljohani, Rawaf Alsharif
Cureus. 2022 Oct; 14(10): e30519. Published online 2022 Oct 20. doi: 10.7759/cureus.30519
PMCID:
PMC9675415
AbstractArticlePDF–497K
7.
Construction and functional analysis of ceRNA regulatory network related to the development of secondary hair follicles in Inner Mongolia cashmere goats
Fangzheng Shang, Rong Ma, Youjun Rong, Jianfeng Pan, Min Wang, Shuran Niu, Yunpeng Qi, Yanbo Li, Zhiying Wang, Qi Lv, Ruijun Wang, Rui Su, Zhihong Liu, Yanhong Zhao, Zhixin Wang, Jinquan Li, Yanjun Zhang
Front Vet Sci. 2022; 9: 959952. Published online 2022 Aug 25. doi: 10.3389/fvets.2022.959952
PMCID:
PMC9453165
AbstractArticlePDF–4.6M
8.
Intersexuality in Pigs: Clinical, Physiological and Practical Considerations
R. H. F. Hunter, T. Greve
Acta Vet Scand. 1996; 37(1): 1–12. Published online 1996 Mar 1. doi: 10.1186/BF03548114
PMCID:
PMC8063982
SummaryPDF–2.0M
9.
Multiple-marker phylogeny and morphological evidence reveal two new species in Steccherinaceae ( Polyporales, Basidiomycota) from Asia
Ting Cao, Jia-Rui Yu, Trang Thị Thu Nguyễn, Hai-Sheng Yuan
MycoKeys. 2021; 78: 169–186. Published online 2021 Apr 5. doi: 10.3897/mycokeys.78.57823
PMCID:
PMC8041734
AbstractArticlePDF–5.1M
10.
Identification of potential key genes and pathways associated with the Pashmina fiber initiation using RNA-Seq and integrated bioinformatics analysis
Basharat Bhat, Mifftha Yaseen, Ashutosh Singh, Syed Mudasir Ahmad, Nazir A. Ganai
Sci Rep. 2021; 11: 1766. Published online 2021 Jan 19. doi: 10.1038/s41598-021-81471-6
PMCID:
PMC7815713
AbstractArticlePDF–2.3M
11.
Prevalence of Polycystic Ovarian Syndrome among Medical Students of a Tertiary Care Hospital
K.C. Shreeyanta, Rakesh Kumar Shah, Avilasha Singh, Astha Prasai, Birat Bhandari, Saman Aryal, Asmita Khatri, Meena Thapa
JNMA J Nepal Med Assoc. 2020 May; 58(225): 297–300. Published online 2020 May. doi: 10.31729/jnma.4885
PMCID:
PMC7654459
AbstractArticlePDF–287K
12.
Massive pericardial effusion and cardiac tamponade revealed undiagnosed Turner syndrome: a case report
Wei Qiang, Rongxin Sun, Xiaopu Zheng, Yuan Du
BMC Cardiovasc Disord. 2020; 20: 459. Published online 2020 Oct 23. doi: 10.1186/s12872-020-01728-2
PMCID:
PMC7583196
AbstractArticlePDF–1.0M
13.
Laparoscopic Hysterectomy and Bilateral Salpingectomy in a Patient with Microduplication Syndrome (20p13p12.1) and a Bicornuate Uterus: An Unreported Association
Harry Pachajoa, Lina Perafan, Isabella Ramos, Álvaro J Escobar
Int J Womens Health. 2020; 12: 675–679. Published online 2020 Aug 25. doi: 10.2147/IJWH.S253885
PMCID:
PMC7457575
AbstractArticlePDF–673K
14.
Folliculitis Induced by Laser Hair Removal: Proposed Mechanism and Treatment
Andrew Schuler, Jesse Veenstra, Alison Tisack
J Clin Aesthet Dermatol. 2020 May; 13(5): 34–36. Published online 2020 May 1.
PMCID:
PMC7380697
AbstractArticlePDF–687K
15.
The establishment of rat model in myocardial ischemia with psychological stress
Chen Wang, Xiao-Reng Wang, Dan-Dan Song, Jian-Li Wang, You Wang, Tian-Qi Tao, Mi Liu, Xiu-Hua Liu, Xu-Dong Wu
Ann Transl Med. 2020 Mar; 8(6): 322. doi: 10.21037/atm.2020.02.128
PMCID:
PMC7186656
AbstractArticlePDF–1.0M
16.
Transcriptomic inspection revealed a possible pathway regulating the formation of the high-quality brush hair in Chinese Haimen goat (Capra hircus)
Dejun Ji, Bo Yang, Yongjun Li, Miaoying Cai, Wei Zhang, Guohu Cheng, Haiyan Guo
R Soc Open Sci. 2018 Jan; 5(1): 170907. Published online 2018 Jan 10. doi: 10.1098/rsos.170907
PMCID:
PMC5792882
AbstractArticlePDF–858K
17.
Symptomatic Ovarian Steroid Cell Tumor not Otherwise Specified in a Post-Menopausal Woman
Neha Sood, Kaniksha Desai, Ana-Maria Chindris, Jason Lewis, Tri A. Dinh
Rare Tumors. 2016 Jun 28; 8(2): 6200. Published online 2016 Jun 28. doi: 10.4081/rt.2016.6200
PMCID:
PMC4935824
AbstractArticlePDF–228K
18.
Hypertrichosis Is Not so Prevalent in Becker's Nevus: Analysis of 47 Cases
Abbas Rasi, Hoda Berenji Ardestani, Seyed Mehdi Tabaie
ISRN Dermatol. 2014; 2014: 953747. Published online 2014 Apr 30. doi: 10.1155/2014/953747
PMCID:
PMC4040207
AbstractArticlePDF–492K
19.
Kohlschütter-Tönz Syndrome – Report of an additional case
Wilfredo A. González-Arriagada, Román Carlos-Bregni, Elisa Contreras, Oslei P. Almeida, Marcio A. Lopes
J Clin Exp Dent. 2013 Apr; 5(2): e108–e111. Published online 2013 Apr 1. doi: 10.4317/jced.51018
PMCID:
PMC3892222
AbstractArticlePDF–345K
20.
Congenital Melanocytic Nevus of Upper Eyelid
Dinesh Singh Chauhan, Yadavalli Guruprasad
J Cutan Aesthet Surg. 2011 Jan-Apr; 4(1): 61–64. doi: 10.4103/0974-2077.79200
PMCID:
PMC3081491
AbstractArticle

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