บทความที่มีข้อกำหนดการเข้าถึงสาธารณะ - Brian P. Brooksดูข้อมูลเพิ่มเติม
ไม่มีให้ใช้งานในทุกที่: 2
Extended correction model for retinal optical imaging
M Ehler, J Kainerstorfer, D Cunningham, M Bono, BP Brooks, RF Bonner
2011 IEEE 1st International Conference on Computational Advances in Bio and …, 2011
ข้อกำหนด: US National Institutes of Health, German Research Foundation
Outer retinal microcavitations in Retinitis Pigmentosa: a novel OCT finding common in RP1-related retinopathy.
IS Dimopoulos, LA Huryn, RB Hufnagel, E Ullah, AR Agather, D Blain, ...
Retina, 10.1097, 2022
ข้อกำหนด: US National Institutes of Health
มีให้ใช้งานในบางที่: 115
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics
DR Simeonov, X Wang, C Wang, Y Sergeev, M Dolinska, M Bower, ...
Human mutation 34 (6), 827-835, 2013
ข้อกำหนด: US National Institutes of Health
Primary cilium-mediated retinal pigment epithelium maturation is disrupted in ciliopathy patient cells
HL May-Simera, Q Wan, BS Jha, J Hartford, V Khristov, R Dejene, ...
Cell reports 22 (1), 189-205, 2018
ข้อกำหนด: US National Institutes of Health
In vitro modeling using ciliopathy-patient-derived cells reveals distinct cilia dysfunctions caused by CEP290 mutations
H Shimada, Q Lu, C Insinna-Kettenhofen, K Nagashima, MA English, ...
Cell reports 20 (2), 384-396, 2017
ข้อกำหนด: US National Institutes of Health
Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance
PP Feuillan, D Ng, JC Han, JC Sapp, K Wetsch, E Spaulding, YC Zheng, ...
The Journal of Clinical Endocrinology & Metabolism 96 (3), E528-E535, 2011
ข้อกำหนด: US National Institutes of Health
Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center
T Vilboux, DA Doherty, IA Glass, MA Parisi, IG Phelps, AR Cullinane, ...
Genetics in Medicine 19 (8), 875-882, 2017
ข้อกำหนด: US National Institutes of Health
Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes
M Asai-Coakwell, CR French, M Ye, K Garcha, K Bigot, AG Perera, ...
Human molecular genetics 18 (6), 1110-1121, 2009
ข้อกำหนด: Canadian Institutes of Health Research
Ocular manifestations of xeroderma pigmentosum: long-term follow-up highlights the role of DNA repair in protection from sun damage
BP Brooks, AH Thompson, RJ Bishop, JA Clayton, CC Chan, ET Tsilou, ...
Ophthalmology 120 (7), 1324-1336, 2013
ข้อกำหนด: US National Institutes of Health
Compound heterozygosity for mutations in PAX6 in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmia
BD Solomon, DE Pineda‐Alvarez, JZ Balog, D Hadley, AL Gropman, ...
American Journal of Medical Genetics Part A 149 (11), 2543-2546, 2009
ข้อกำหนด: US National Institutes of Health
Biallelic mutations in MITF cause coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
A George, DJ Zand, RB Hufnagel, R Sharma, YV Sergeev, JM Legare, ...
The American Journal of Human Genetics 99 (6), 1388-1394, 2016
ข้อกำหนด: US National Institutes of Health
Developing cellular therapies for retinal degenerative diseases
K Bharti, M Rao, SC Hull, D Stroncek, BP Brooks, E Feigal, JC van Meurs, ...
Investigative ophthalmology & visual science 55 (2), 1191-1202, 2014
ข้อกำหนด: US National Institutes of Health
Ophthalmic manifestations and histopathology of xeroderma pigmentosum: two clinicopathological cases and a review of the literature
HL Ramkumar, BP Brooks, X Cao, D Tamura, JJ DiGiovanna, ...
Survey of ophthalmology 56 (4), 348-361, 2011
ข้อกำหนด: US National Institutes of Health, Howard Hughes Medical Institute
A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome
SA Di Gioia, S Connors, N Matsunami, J Cannavino, MF Rose, NM Gilette, ...
Nature communications 8 (1), 16077, 2017
ข้อกำหนด: Swiss National Science Foundation, US National Institutes of Health, Howard …
Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations
JJ Johnston, KL Lewis, D Ng, LN Singh, J Wynter, C Brewer, BP Brooks, ...
The American Journal of Human Genetics 96 (6), 913-925, 2015
ข้อกำหนด: US National Institutes of Health
Antisense oligonucleotides targeting mutant Ataxin-7 restore visual function in a mouse model of spinocerebellar ataxia type 7
C Niu, TP Prakash, A Kim, JL Quach, LA Huryn, Y Yang, E Lopez, ...
Science translational medicine 10 (465), eaap8677, 2018
ข้อกำหนด: US National Institutes of Health
Association of brain-derived neurotrophic factor (BDNF) haploinsufficiency with lower adaptive behaviour and reduced cognitive functioning in WAGR/11p13 deletion syndrome
JC Han, A Thurm, CG Williams, LA Joseph, WM Zein, BP Brooks, ...
Cortex 49 (10), 2700-2710, 2013
ข้อกำหนด: US National Institutes of Health
Gene therapy of dominant CRX-Leber congenital amaurosis using patient stem cell-derived retinal organoids
K Kruczek, Z Qu, J Gentry, BR Fadl, L Gieser, S Hiriyanna, Z Batz, ...
Stem cell reports 16 (2), 252-263, 2021
ข้อกำหนด: US National Institutes of Health
Expression profiling during ocular development identifies 2 Nlz genes with a critical role in optic fissure closure
JD Brown, S Dutta, K Bharti, RF Bonner, PJ Munson, IB Dawid, AL Akhtar, ...
Proceedings of the National Academy of Sciences 106 (5), 1462-1467, 2009
ข้อกำหนด: US National Institutes of Health
Recurrent mutations in the basic domain of TWIST2 cause ablepharon macrostomia and Barber-Say syndromes
S Marchegiani, T Davis, F Tessadori, G Van Haaften, F Brancati, ...
The American Journal of Human Genetics 97 (1), 99-110, 2015
ข้อกำหนด: US National Institutes of Health, Netherlands Organisation for Health …
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