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

Year Number of Results
1970 1
1971 1
1972 1
1975 4
1976 1
1977 2
1978 2
1979 4
1980 4
1981 1
1982 2
1983 1
1984 4
1985 5
1986 5
1987 3
1988 6
1989 5
1990 5
1991 4
1992 8
1993 14
1994 15
1995 17
1996 17
1997 12
1998 12
1999 12
2000 12
2001 15
2002 28
2003 21
2004 19
2005 29
2006 21
2007 21
2008 19
2009 28
2010 25
2011 33
2012 32
2013 35
2014 44
2015 47
2016 44
2017 33
2018 39
2019 41
2020 36
2021 38
2022 40
2023 32
2024 17

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843 results

Results by year

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Quoted phrase not found in phrase index: "Osteopenia-intellectual disability-sparse hair syndrome"
Page 1
Gut microbiota dynamics in a prospective cohort of patients with post-acute COVID-19 syndrome.
Liu Q, Mak JWY, Su Q, Yeoh YK, Lui GC, Ng SSS, Zhang F, Li AYL, Lu W, Hui DS, Chan PK, Chan FKL, Ng SC. Liu Q, et al. Gut. 2022 Mar;71(3):544-552. doi: 10.1136/gutjnl-2021-325989. Epub 2022 Jan 26. Gut. 2022. PMID: 35082169
OBJECTIVE: To investigate whether gut microbiome composition is linked to post-acute COVID-19 syndrome (PACS), defined as at least one persistent symptom 4 weeks after clearance of the SARS-CoV-2 virus. ...Further studies should investigate whether microbiota modulation ca …
OBJECTIVE: To investigate whether gut microbiome composition is linked to post-acute COVID-19 syndrome (PACS), defined as at least on …
Syndromic diarrhea/Tricho-hepato-enteric syndrome.
Fabre A, Martinez-Vinson C, Goulet O, Badens C. Fabre A, et al. Orphanet J Rare Dis. 2013 Jan 9;8:5. doi: 10.1186/1750-1172-8-5. Orphanet J Rare Dis. 2013. PMID: 23302111 Free PMC article. Review.
Syndromic diarrhea/Tricho-hepato-enteric syndrome (SD/THE) is a rare and severe bowel disorder caused by mutation in SKIV2L or in TTC37, 2 genes encoding subunits of the putative human SKI complex. ...With time, some of them can be weaned off parenteral nutrition an …
Syndromic diarrhea/Tricho-hepato-enteric syndrome (SD/THE) is a rare and severe bowel disorder caused by mutation in SKIV2L or …
Klinefelter syndrome.
Smyth CM, Bremner WJ. Smyth CM, et al. Arch Intern Med. 1998 Jun 22;158(12):1309-14. doi: 10.1001/archinte.158.12.1309. Arch Intern Med. 1998. PMID: 9645824 Review.
Klinefelter syndrome is the most common sex chromosome disorder. Affected males carry an additional X chromosome, which results in male hypogonadism, androgen deficiency, and impaired spermatogenesis. Some patients may exhibit all of the classic signs of this disorder, inc …
Klinefelter syndrome is the most common sex chromosome disorder. Affected males carry an additional X chromosome, which results in ma …
PNPLA6 disorders: what's in a name?
Liu J, Hufnagel RB. Liu J, et al. Ophthalmic Genet. 2023 Dec;44(6):530-538. doi: 10.1080/13816810.2023.2254830. Epub 2023 Nov 20. Ophthalmic Genet. 2023. PMID: 37732399 Review.
RESULTS: Biallelic pathogenic PNPLA6 variants cause five systemic neurological disorders: spastic paraplegia type 39, Gordon-Holmes, Boucher-Neuhauser, Laurence-Moon, and Oliver-McFarlane syndromes. PNPLA6 encodes NTE, an enzyme involved in maintaining phospholipid homeost …
RESULTS: Biallelic pathogenic PNPLA6 variants cause five systemic neurological disorders: spastic paraplegia type 39, Gordon-Holmes, Boucher …
Hair and skin predict cardiomyopathies: Carvajal and erythrokeratodermia cardiomyopathy syndromes.
Sun Q, Wine Lee L, Hall EK, Choate KA, Elder RW. Sun Q, et al. Pediatr Dermatol. 2021 Jan;38(1):31-38. doi: 10.1111/pde.14478. Epub 2020 Dec 4. Pediatr Dermatol. 2021. PMID: 33275305 Review.
Carvajal and erythrokeratodermia cardiomyopathy syndromes (EKC) are rare, inherited cardiocutaneous disorders with potentially fatal consequences in young children. ...In this article, we discuss established treatments as well as a promising, novel therapeutic that has led …
Carvajal and erythrokeratodermia cardiomyopathy syndromes (EKC) are rare, inherited cardiocutaneous disorders with potentially fatal …
Keratosis Pilaris.
[No authors listed] [No authors listed] Pediatr Dermatol. 2019 Nov;36(6):937-938. doi: 10.1111/pde.14062. Pediatr Dermatol. 2019. PMID: 31778553 No abstract available.
Queratosis Pilaris.
[No authors listed] [No authors listed] Pediatr Dermatol. 2019 Nov;36(6):e106-e107. doi: 10.1111/pde.14063. Pediatr Dermatol. 2019. PMID: 31778571 No abstract available.
Griscelli syndrome.
Emanuel PO, Sternberg LJ, Phelps RG. Emanuel PO, et al. Skinmed. 2007 May-Jun;6(3):147-9. doi: 10.1111/j.1540-9740.2007.05783.x. Skinmed. 2007. PMID: 17483661
The dermatology staff was called to evaluate abnormal hair on a 22-month-old Hispanic girl whose parents were first cousins. ...On examination she was noted to have generalized excessively fair skin when compared with her parents. She had silver-gray hair (Figure 1) …
The dermatology staff was called to evaluate abnormal hair on a 22-month-old Hispanic girl whose parents were first cousins. ...On ex …
Waardenburg syndrome.
Read AP, Newton VE. Read AP, et al. J Med Genet. 1997 Aug;34(8):656-65. doi: 10.1136/jmg.34.8.656. J Med Genet. 1997. PMID: 9279758 Free PMC article. Review.
Auditory-pigmentary syndromes are caused by physical absence of melanocytes from the skin, hair, eyes, or the stria vascularis of the cochlea. ...Type III WS (Klein-Waardenburg syndrome, with abnormalities of the arms) is an extreme presentation of type I; so …
Auditory-pigmentary syndromes are caused by physical absence of melanocytes from the skin, hair, eyes, or the stria vascularis …
Microbial forensics: new breakthroughs and future prospects.
Oliveira M, Amorim A. Oliveira M, et al. Appl Microbiol Biotechnol. 2018 Dec;102(24):10377-10391. doi: 10.1007/s00253-018-9414-6. Epub 2018 Oct 9. Appl Microbiol Biotechnol. 2018. PMID: 30302518 Free PMC article. Review.
., drownings, toxicology, hospital-acquired infections, sudden infant death and shaken baby syndromes); (iii) to assist human identification (skin, hair and body fluid microbiomes); (iv) for geolocation (soil microbiome); and (v) to estimate postmortem interval (tha …
., drownings, toxicology, hospital-acquired infections, sudden infant death and shaken baby syndromes); (iii) to assist human identif …
843 results