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1976
2025

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1976 1
1988 2
1990 1
1992 4
1993 1
1995 2
1997 1
1999 1
2000 1
2001 2
2002 1
2004 1
2005 4
2007 1
2008 1
2010 1
2012 2
2014 5
2015 5
2016 3
2017 6
2018 6
2020 3
2021 3
2022 4
2023 8
2024 2
2025 0

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63 results

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Page 1
Kabuki Syndrome-Clinical Review with Molecular Aspects.
Boniel S, Szymańska K, Śmigiel R, Szczałuba K. Boniel S, et al. Genes (Basel). 2021 Mar 25;12(4):468. doi: 10.3390/genes12040468. Genes (Basel). 2021. PMID: 33805950 Free PMC article. Review.
Kabuki syndrome (KS) is a rare developmental disorder principally comprised of developmental delay, hypotonia and a clearly defined dysmorphism: elongation of the structures surrounding the eyes, a shortened and depressed nose, thinning of the upper lip and thickening of t …
Kabuki syndrome (KS) is a rare developmental disorder principally comprised of developmental delay, hypotonia and a clearly defined dysmorph …
Hypertrophic pachymeningitis in ANCA-associated vasculitis: Clinical and immunopathological features and insights.
Shimojima Y, Sekijima Y. Shimojima Y, et al. Autoimmun Rev. 2023 Jun;22(6):103338. doi: 10.1016/j.autrev.2023.103338. Epub 2023 Apr 14. Autoimmun Rev. 2023. PMID: 37062439 Review.
Hypertrophic pachymeningitis (HP) is an inflammatory disorder characterized by intracranial and spinal thickened dura mater, leading to several neurological manifestations including headaches, cranial neuropathies, seizures, and sensorimotor disorders. ...The histology of …
Hypertrophic pachymeningitis (HP) is an inflammatory disorder characterized by intracranial and spinal thickened dura mater, leading …
Noonan syndrome.
van der Burgt I. van der Burgt I. Orphanet J Rare Dis. 2007 Jan 14;2:4. doi: 10.1186/1750-1172-2-4. Orphanet J Rare Dis. 2007. PMID: 17222357 Free PMC article. Review.
The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set posteriorly rotated ears with a thickened helix. The cardiovascular defects most commonly associated with this condition are pulmonary stenosis and hypertrophi …
The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set posteriorly rotated ears w …
Mucopolysaccharidosis type I.
Wraith JE, Jones S. Wraith JE, et al. Pediatr Endocrinol Rev. 2014 Sep;12 Suppl 1:102-6. Pediatr Endocrinol Rev. 2014. PMID: 25345091 Review.
MPS IH (Hurler Disease) affected infants develop a spinal 'gibbus' deformity, persistent nasal discharge, middle ear effusions and frequent upper respiratory infection. They have "coarse", facial features, and an enlarged tongue. . ...Joint mobility improves but not dural …
MPS IH (Hurler Disease) affected infants develop a spinal 'gibbus' deformity, persistent nasal discharge, middle ear effusions and fr …
Idiopathic hypertrophic pachymeningitis.
Kupersmith MJ, Martin V, Heller G, Shah A, Mitnick HJ. Kupersmith MJ, et al. Neurology. 2004 Mar 9;62(5):686-94. doi: 10.1212/01.wnl.0000113748.53023.b7. Neurology. 2004. PMID: 15007115 Review.
BACKGROUND: Hypertrophic pachymeningitis is an uncommon disorder that causes a localized or diffuse thickening of the dura mater and has been associated with rheumatoid arthritis, syphilis, Wegener's granulomatosis, tuberculosis, and cancer. ...
BACKGROUND: Hypertrophic pachymeningitis is an uncommon disorder that causes a localized or diffuse thickening of the dura mater and …
Acromegaly: clinical features at diagnosis.
Vilar L, Vilar CF, Lyra R, Lyra R, Naves LA. Vilar L, et al. Pituitary. 2017 Feb;20(1):22-32. doi: 10.1007/s11102-016-0772-8. Pituitary. 2017. PMID: 27812777 Review.
The typical coarsening of facial features include furrowing of fronthead, pronounced brow protrusion, enlargement of the nose and the ears, thickening of the lips, skin wrinkles and nasolabial folds, as well as mandibular prognathism that leads to dental malocclusio …
The typical coarsening of facial features include furrowing of fronthead, pronounced brow protrusion, enlargement of the nose and the ear
New Imaging Modalities in Otology.
Bance M, Zarowski A, Adamson RA, Casselman JW. Bance M, et al. Adv Otorhinolaryngol. 2018;81:1-13. doi: 10.1159/000485576. Epub 2018 Apr 6. Adv Otorhinolaryngol. 2018. PMID: 29794443 Review.
Potential future imaging modalities are also presented, including optical coherence tomography (OCT) and high-frequency ultrasound (HFUS) of the ear. These experimental modalities offer new opportunities for the assessment of ear structure and function. ...Functiona …
Potential future imaging modalities are also presented, including optical coherence tomography (OCT) and high-frequency ultrasound (HFUS) of …
Development of the inner ear.
Whitfield TT. Whitfield TT. Curr Opin Genet Dev. 2015 Jun;32:112-8. doi: 10.1016/j.gde.2015.02.006. Epub 2015 Mar 19. Curr Opin Genet Dev. 2015. PMID: 25796080 Free article. Review.
The vertebrate inner ear is a sensory organ of exquisite design and sensitivity. It responds to sound, gravity and movement, serving both auditory (hearing) and vestibular (balance) functions. Almost all cell types of the inner ear, including sensory hair cells, sen …
The vertebrate inner ear is a sensory organ of exquisite design and sensitivity. It responds to sound, gravity and movement, serving …
Paraproteinemic crystalline keratopathy.
Ormerod LD, Collin HB, Dohlman CH, Craft JL, Desforges JF, Albert DM. Ormerod LD, et al. Ophthalmology. 1988 Feb;95(2):202-12. doi: 10.1016/s0161-6420(88)33200-8. Ophthalmology. 1988. PMID: 3140156 Review.
The deposits consisted of diffuse, small, polymorphic aggregates, which were iridescent in the superficial cornea, mat elsewhere, and associated with a diffuse stromal haze; specular microscopy showed additional features. Both corneas were thickened. The deposits failed to …
The deposits consisted of diffuse, small, polymorphic aggregates, which were iridescent in the superficial cornea, mat elsewhere, and associ …
Clinical and anatomical features of myopia.
Jonas JB, Panda-Jonas S, Dong L, Jonas RA. Jonas JB, et al. Asia Pac J Ophthalmol (Phila). 2024 Nov-Dec;13(6):100114. doi: 10.1016/j.apjo.2024.100114. Epub 2024 Nov 30. Asia Pac J Ophthalmol (Phila). 2024. PMID: 39622437 Free article. Review.
Myopic parapapillary beta zone (potentially caused by an axial elongation-related enlargement of the retinal pigment epithelium [RPE] layer opening; characterized by small or no alpha zone, few or no RPE drusen at its border, normal BM thickness) can be differentiated from glauco …
Myopic parapapillary beta zone (potentially caused by an axial elongation-related enlargement of the retinal pigment epithelium [RPE] layer …
63 results