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

Year Number of Results
1957 1
1961 2
1964 1
1965 3
1966 2
1967 4
1968 1
1969 1
1970 5
1971 5
1972 6
1973 6
1974 8
1975 37
1976 43
1977 38
1978 24
1979 38
1980 43
1981 41
1982 44
1983 50
1984 78
1985 56
1986 63
1987 84
1988 90
1989 125
1990 136
1991 109
1992 133
1993 162
1994 188
1995 187
1996 164
1997 193
1998 262
1999 239
2000 224
2001 263
2002 282
2003 336
2004 360
2005 449
2006 419
2007 477
2008 513
2009 561
2010 619
2011 613
2012 692
2013 778
2014 767
2015 816
2016 811
2017 811
2018 797
2019 826
2020 991
2021 1078
2022 1027
2023 866
2024 322

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16,265 results

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Quoted phrase not found in phrase index: "Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome"
Page 1
Mushroom Poisoning.
Wennig R, Eyer F, Schaper A, Zilker T, Andresen-Streichert H. Wennig R, et al. Dtsch Arztebl Int. 2020 Oct 16;117(42):701-708. doi: 10.3238/arztebl.2020.0701. Dtsch Arztebl Int. 2020. PMID: 33559585 Free PMC article. Review.
METHODS: This review is based on pertinent publications about the syndromes, toxins, and diagnostic modalities that are presented here, which were retrieved by a selective search in PubMed. ...RESULTS: A distinction is usually drawn between mushroom poisoning with a sho …
METHODS: This review is based on pertinent publications about the syndromes, toxins, and diagnostic modalities that are presented her …
The trisomy 18 syndrome.
Cereda A, Carey JC. Cereda A, et al. Orphanet J Rare Dis. 2012 Oct 23;7:81. doi: 10.1186/1750-1172-7-81. Orphanet J Rare Dis. 2012. PMID: 23088440 Free PMC article. Review.
The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chromosome 18, either full, mosaic trisomy, or partial trisomy 18q. ...Typical minor anomalies include characteristic craniofacial features, cle …
The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chro …
Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature.
Fan X, Zhao S, Yu C, Wu D, Yan Z, Fan L, Song Y, Wang Y, Li C, Ming Y, Gui B, Niu Y, Li X, Yang X, Luo S, Zhang Q, Zhao X, Pan H, Li M, Xia W, Qiu G, Liu P, Zhang S, Zhang J, Wu Z; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study; Lupski JR, Posey JE, Chen S, Gong C, Wu N. Fan X, et al. J Genet Genomics. 2021 May 20;48(5):396-402. doi: 10.1016/j.jgg.2021.02.008. Epub 2021 Mar 22. J Genet Genomics. 2021. PMID: 34006472
All patients were retrospectively divided into two groups: an isolated short stature group (group I, n = 257) and an apparently syndromic short stature group (group II, n = 304). ...Genes involved in fundamental cellular process played an important role in th …
All patients were retrospectively divided into two groups: an isolated short stature group (group I, n = 257) and an apparently sy …
Inherited Arrhythmia Syndromes.
Kim JA, Chelu MG. Kim JA, et al. Tex Heart Inst J. 2021 Sep 1;48(4):e207482. doi: 10.14503/THIJ-20-7482. Tex Heart Inst J. 2021. PMID: 34669951 Free PMC article. No abstract available.
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. ...Even with optimal management, most of the children seem to experi …
Syndromic diarrhea/Tricho-hepato-enteric syndrome (SD/THE) is a rare and severe bowel disorder caused by mutation in SKIV2L or …
Alstrom syndrome.
Marshall JD, Beck S, Maffei P, Naggert JK. Marshall JD, et al. Eur J Hum Genet. 2007 Dec;15(12):1193-202. doi: 10.1038/sj.ejhg.5201933. Epub 2007 Oct 17. Eur J Hum Genet. 2007. PMID: 17940554
Alstrom Syndrome is an autosomal recessive, single gene disorder caused by mutations in ALMS1 (Chr 2p13), a novel gene of currently unknown molecular function. ...The life span of patients with Alstrom Syndrome rarely exceeds 40 years. There is no specific therapy f …
Alstrom Syndrome is an autosomal recessive, single gene disorder caused by mutations in ALMS1 (Chr 2p13), a novel gene of currently u …
Short-leg syndrome.
Vogel F Jr. Vogel F Jr. Clin Podiatry. 1984 Dec;1(3):581-99. Clin Podiatry. 1984. PMID: 6536410
Short-leg syndrome, or asymmetry of length in the lower extremities, is a common orthopedic problem in children. ...Scanograms or orthoroentgenograms are useful in diagnosing, quantifying, and prognosing short-leg syndrome. Prediction of the projected …
Short-leg syndrome, or asymmetry of length in the lower extremities, is a common orthopedic problem in children. ...Scanograms …
Postorgasmic Illness Syndrome: An Update.
Zizzo J, F Sávio L, Ramasamy R, F N Lima T. Zizzo J, et al. Eur Urol Focus. 2023 Jan;9(1):22-24. doi: 10.1016/j.euf.2022.09.016. Epub 2022 Oct 22. Eur Urol Focus. 2023. PMID: 36283946 Review.
Postorgasmic illness syndrome (POIS) is a rare condition affecting men who experience a cluster of flu-like and allergic symptoms after ejaculation. ...PATIENT SUMMARY: In this review, we discuss what is known about postorgasmic illness syndrome (POIS), a disease th …
Postorgasmic illness syndrome (POIS) is a rare condition affecting men who experience a cluster of flu-like and allergic symptoms aft …
SARS-CoV-2, COVID-19, and inherited arrhythmia syndromes.
Wu CI, Postema PG, Arbelo E, Behr ER, Bezzina CR, Napolitano C, Robyns T, Probst V, Schulze-Bahr E, Remme CA, Wilde AAM. Wu CI, et al. Heart Rhythm. 2020 Sep;17(9):1456-1462. doi: 10.1016/j.hrthm.2020.03.024. Epub 2020 Mar 31. Heart Rhythm. 2020. PMID: 32244059 Free PMC article. Review.
Ever since the first case was reported at the end of 2019, the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and the associated coronavirus disease 2019 (COVID-19) has become a serious threat to public health globally in short time. ...This may be of …
Ever since the first case was reported at the end of 2019, the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and the a …
Hereditary Syndromes of Sudden Cardiac Death.
Berberian JG. Berberian JG. Emerg Med Clin North Am. 2022 Nov;40(4):651-662. doi: 10.1016/j.emc.2022.06.005. Epub 2022 Oct 7. Emerg Med Clin North Am. 2022. PMID: 36396213 Review.
Sudden cardiac death (SCD) describes the unexpected natural death from a cardiac cause within a short time period, generally 1 hour or lesser from the onset of symptoms, often due to a cardiac dysrhythmia. ...
Sudden cardiac death (SCD) describes the unexpected natural death from a cardiac cause within a short time period, generally 1 hour o …
16,265 results
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