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

Year Number of Results
1965 1
1968 2
1970 3
1971 1
1972 3
1973 4
1974 3
1975 12
1976 22
1977 19
1978 18
1979 17
1980 18
1981 19
1982 20
1983 15
1984 33
1985 26
1986 45
1987 32
1988 38
1989 58
1990 58
1991 60
1992 91
1993 85
1994 122
1995 122
1996 111
1997 129
1998 143
1999 165
2000 147
2001 161
2002 137
2003 157
2004 170
2005 207
2006 227
2007 276
2008 269
2009 296
2010 314
2011 344
2012 354
2013 386
2014 401
2015 440
2016 407
2017 479
2018 462
2019 514
2020 588
2021 549
2022 446
2023 411
2024 160

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8,682 results

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Quoted phrase not found in phrase index: "Pancytopenia-developmental delay syndrome"
Page 1
Congenital hyperinsulinism disorders: Genetic and clinical characteristics.
Rosenfeld E, Ganguly A, De Leon DD. Rosenfeld E, et al. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):682-692. doi: 10.1002/ajmg.c.31737. Epub 2019 Aug 14. Am J Med Genet C Semin Med Genet. 2019. PMID: 31414570 Free PMC article. Review.
Congenital hyperinsulinism (HI) is the most frequent cause of persistent hypoglycemia in infants and children. Delays in diagnosis and initiation of appropriate treatment contribute to a high risk of neurocognitive impairment. ...There are at least nine known monogenic for …
Congenital hyperinsulinism (HI) is the most frequent cause of persistent hypoglycemia in infants and children. Delays in diagnosis an …
Neonatal jaundice.
McKiernan P. McKiernan P. Clin Res Hepatol Gastroenterol. 2012 Jun;36(3):253-6. doi: 10.1016/j.clinre.2012.03.018. Epub 2012 May 18. Clin Res Hepatol Gastroenterol. 2012. PMID: 22609294
It should be possible to confirm or exclude biliary atresia within one week, so that definitive surgery is not delayed unnecessarily. Babies with the neonatal hepatitis syndrome should have vigorous fat-soluble vitamin supplementation, including parenteral vitamin K …
It should be possible to confirm or exclude biliary atresia within one week, so that definitive surgery is not delayed unnecessarily. …
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. ...Most patients demonstrate normal intelligence, although some reports indicate delayed psychomotor and i …
Alstrom Syndrome is an autosomal recessive, single gene disorder caused by mutations in ALMS1 (Chr 2p13), a novel gene of currently u …
Genetics and developmental delay.
Macmillan C. Macmillan C. Semin Pediatr Neurol. 1998 Mar;5(1):39-44. doi: 10.1016/s1071-9091(98)80017-x. Semin Pediatr Neurol. 1998. PMID: 9548640 Review.
A secure diagnosis based on molecular evidence has become possible for many syndromes previously only clinically defined, which has helped enormously in predicting children's developmental progress, in allowing knowledgeable surveillance for potential associated hea …
A secure diagnosis based on molecular evidence has become possible for many syndromes previously only clinically defined, which has h …
Clinically isolated syndromes.
Miller DH, Chard DT, Ciccarelli O. Miller DH, et al. Lancet Neurol. 2012 Feb;11(2):157-69. doi: 10.1016/S1474-4422(11)70274-5. Lancet Neurol. 2012. PMID: 22265211 Review.
Prediction of the long-term course at disease onset is unreliable. Disease-modifying treatments delay the development from CIS to MS. Their use in CIS is limited by uncertain long-term clinical prognosis and treatment benefits and adverse effects, alth …
Prediction of the long-term course at disease onset is unreliable. Disease-modifying treatments delay the development f …
Imaging for acute aortic syndromes.
Carroll BJ, Schermerhorn ML, Manning WJ. Carroll BJ, et al. Heart. 2020 Feb;106(3):182-189. doi: 10.1136/heartjnl-2019-314897. Epub 2019 Dec 10. Heart. 2020. PMID: 31822571 Review.
Acute aortic syndromes (AAS) represent a spectrum of disorders with a common theme of disruption in aortic integrity. ...Additionally, imaging is vital for planning of interventions in both acute and delayed intervention. Endovascular treatment options are used with …
Acute aortic syndromes (AAS) represent a spectrum of disorders with a common theme of disruption in aortic integrity. ...Additionally …
Deletion 22q13.3 syndrome.
Phelan MC. Phelan MC. Orphanet J Rare Dis. 2008 May 27;3:14. doi: 10.1186/1750-1172-3-14. Orphanet J Rare Dis. 2008. PMID: 18505557 Free PMC article.
The deletion 22q13.3 syndrome (deletion 22q13 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delay …
The deletion 22q13.3 syndrome (deletion 22q13 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion sy …
Drug Treatment of Clinically Isolated Syndrome.
Förster M, Graf J, Mares J, Aktas O, Hartung HP, Kremer D. Förster M, et al. CNS Drugs. 2019 Jul;33(7):659-676. doi: 10.1007/s40263-019-00647-x. CNS Drugs. 2019. PMID: 31290079 Review.
In most cases, it is preceded by its precursor, clinically isolated syndrome (CIS) with conversion rates to clinically definite MS (CDMS) of roughly 20-75%. ...Here, we review the available data on the efficacy, safety and tolerability of DMTs tested for CIS and discuss th …
In most cases, it is preceded by its precursor, clinically isolated syndrome (CIS) with conversion rates to clinically definite MS (C …
Angelman syndrome: clinical profile.
Zori RT, Hendrickson J, Woolven S, Whidden EM, Gray B, Williams CA. Zori RT, et al. J Child Neurol. 1992 Jul;7(3):270-80. doi: 10.1177/088307389200700307. J Child Neurol. 1992. PMID: 1634750 Review.
To further delineate the clinical and developmental features of Angelman syndrome, we collected data through three sources of information: (1) physical examinations; (2) laboratory data and family questionnaire data of affected individuals; and (3) literature review. The q …
To further delineate the clinical and developmental features of Angelman syndrome, we collected data through three sources of informa …
Alternating hemiplegia of childhood: a distinct clinical entity and ATP1A3-related disorders: A narrative review.
Pavone P, Pappalardo XG, Ruggieri M, Falsaperla R, Parano E. Pavone P, et al. Medicine (Baltimore). 2022 Aug 5;101(31):e29413. doi: 10.1097/MD.0000000000029413. Medicine (Baltimore). 2022. PMID: 35945798 Free PMC article. Review.
AHC is often associated with epileptic seizures and developmental delay. Hemiplegic paroxysm is the most remarkable symptom, although AHC includes a large series of clinical manifestations that interfere with the disease course. ...Herewith, we discussed about histo …
AHC is often associated with epileptic seizures and developmental delay. Hemiplegic paroxysm is the most remarkable symptom, although …
8,682 results