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

Year Number of Results
1967 1
1968 1
1970 2
1971 6
1972 1
1973 1
1974 1
1975 10
1976 5
1977 6
1978 11
1979 10
1980 9
1981 15
1982 7
1983 11
1984 10
1985 15
1986 21
1987 42
1988 68
1989 81
1990 77
1991 91
1992 95
1993 132
1994 103
1995 129
1996 134
1997 136
1998 128
1999 162
2000 176
2001 164
2002 196
2003 181
2004 210
2005 253
2006 224
2007 235
2008 251
2009 213
2010 279
2011 275
2012 293
2013 312
2014 352
2015 329
2016 334
2017 376
2018 342
2019 361
2020 342
2021 374
2022 384
2023 357
2024 226

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7,768 results

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Page 1
The RASopathies.
Rauen KA. Rauen KA. Annu Rev Genomics Hum Genet. 2013;14:355-69. doi: 10.1146/annurev-genom-091212-153523. Epub 2013 Jul 15. Annu Rev Genomics Hum Genet. 2013. PMID: 23875798 Free PMC article. Review.
The RASopathies are a clinically defined group of medical genetic syndromes caused by germline mutations in genes that encode components or regulators of the Ras/mitogen-activated protein kinase (MAPK) pathway. These disorders include neurofibromatosis type 1, Noonan syndr …
The RASopathies are a clinically defined group of medical genetic syndromes caused by germline mutations in genes that encode components or …
VACTERL/VATER Association.
Solomon BD. Solomon BD. Orphanet J Rare Dis. 2011 Aug 16;6:56. doi: 10.1186/1750-1172-6-56. Orphanet J Rare Dis. 2011. PMID: 21846383 Free PMC article. Review.
VACTERL/VATER association is typically defined by the presence of at least three of the following congenital malformations: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. In addition to these co …
VACTERL/VATER association is typically defined by the presence of at least three of the following congenital malformations: vertebral …
Developmental dysplasia of the hip.
Zhang S, Doudoulakis KJ, Khurwal A, Sarraf KM. Zhang S, et al. Br J Hosp Med (Lond). 2020 Jul 2;81(7):1-8. doi: 10.12968/hmed.2020.0223. Epub 2020 Jul 6. Br J Hosp Med (Lond). 2020. PMID: 32730146 Review.
Developmental dysplasia of the hip encompasses a range of hip abnormalities in which the femoral head and acetabulum fail to develop and articulate anatomically. ...This results in a spectrum of different hip abnormalities. The precise aetiology behind developmental …
Developmental dysplasia of the hip encompasses a range of hip abnormalities in which the femoral head and acetabulum fail to develop …
Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder.
Van Gils J, Magdinier F, Fergelot P, Lacombe D. Van Gils J, et al. Genes (Basel). 2021 Jun 24;12(7):968. doi: 10.3390/genes12070968. Genes (Basel). 2021. PMID: 34202860 Free PMC article. Review.
The Rubinstein-Taybi syndrome (RSTS) is a rare congenital developmental disorder characterized by a typical facial dysmorphism, distal limb abnormalities, intellectual disability, and many additional phenotypical features. ...Because of the clinical he …
The Rubinstein-Taybi syndrome (RSTS) is a rare congenital developmental disorder characterized by a typical facial dysmorphism …
Occipital Encephalocele: Cause, Incidence, Neuroimaging and Surgical Management.
Markovic I, Bosnjakovic P, Milenkovic Z. Markovic I, et al. Curr Pediatr Rev. 2020;16(3):200-205. doi: 10.2174/1573396315666191018161535. Curr Pediatr Rev. 2020. PMID: 31656152 Free PMC article. Review.
BACKGROUND: Encephalocele (E) is a defect of the neural tube that refers to congenital malformations featured by skull defect and dura with extracranial spread of intracranial structures. Occipital encephalocele (OE) are the most common form of this congenital …
BACKGROUND: Encephalocele (E) is a defect of the neural tube that refers to congenital malformations featured by skull defect …
Congenital Pulmonary Airway Malformations With a Reconsideration and Current Perspective on the Stocker Classification.
Dehner LP, Schultz KAP, Hill DA. Dehner LP, et al. Pediatr Dev Pathol. 2023 May-Jun;26(3):241-249. doi: 10.1177/10935266221146823. Epub 2023 Feb 21. Pediatr Dev Pathol. 2023. PMID: 37334833 Review.
Congenital cystic pulmonary lesions (CCPLs) are represented by the following entities: congenital pulmonary airway malformation (CPAM), formerly congenital cystic adenomatoid malformation, extra- and intralobar sequestration (EIS), congenital lobar emp …
Congenital cystic pulmonary lesions (CCPLs) are represented by the following entities: congenital pulmonary airway malformatio …
Recurrent 1q21.1 deletion syndrome: report on variable expression, nonpenetrance and review of literature.
Upadhyai P, Amiri EF, Guleria VS, Bielas SL, Girisha KM, Shukla A. Upadhyai P, et al. Clin Dysmorphol. 2020 Jul;29(3):127-131. doi: 10.1097/MCD.0000000000000327. Clin Dysmorphol. 2020. PMID: 32459673 Free PMC article. Review.
The clinical phenotype of 1q21.1 microdeletion syndrome is highly heterogeneous. It is characterized by dysmorphic facial features, microcephaly, and developmental delay. Several congenital defects, including cardiac, ocular, skeletal anomalies, and psychiatr …
The clinical phenotype of 1q21.1 microdeletion syndrome is highly heterogeneous. It is characterized by dysmorphic facial features …
Diversity and dysmorphology.
Kruszka P, Tekendo-Ngongang C, Muenke M. Kruszka P, et al. Curr Opin Pediatr. 2019 Dec;31(6):702-707. doi: 10.1097/MOP.0000000000000816. Curr Opin Pediatr. 2019. PMID: 31693576 Review.
PURPOSE OF REVIEW: Dysmorphic features result from errors in morphogenesis frequently associated with genetic syndromes. Recognizing patterns of dysmorphic features is a critical step in the diagnosis and management of human congenital anomalies …
PURPOSE OF REVIEW: Dysmorphic features result from errors in morphogenesis frequently associated with genetic syndromes. Recog …
The preauricular sinus: a review of its clinical presentation, treatment, and associations.
Scheinfeld NS, Silverberg NB, Weinberg JM, Nozad V. Scheinfeld NS, et al. Pediatr Dermatol. 2004 May-Jun;21(3):191-6. doi: 10.1111/j.0736-8046.2004.21301.x. Pediatr Dermatol. 2004. PMID: 15165194 Review.
Preauricular sinuses (ear pits) are common congenital abnormalities. Usually asymptomatic, they manifest as small dells adjacent to the external ear near the anterior margin of the ascending limb of the helix, most frequently on the right side. ...When other cong …
Preauricular sinuses (ear pits) are common congenital abnormalities. Usually asymptomatic, they manifest as small dells adjace …
Andersen-Tawil syndrome.
Goslinga JA, PtáČek LJ, Tawil R, Fay A. Goslinga JA, et al. Handb Clin Neurol. 2024;203:59-67. doi: 10.1016/B978-0-323-90820-7.00001-X. Handb Clin Neurol. 2024. PMID: 39174254 Review.
Andersen-Tawil syndrome (ATS) is one of the periodic paralyses, a set of skeletal muscle disorders that cause transient weakness of the arms and legs lasting minutes to many hours. Distinguishing features of ATS include facial and limb dysmorphisms, cardiac arrhythm …
Andersen-Tawil syndrome (ATS) is one of the periodic paralyses, a set of skeletal muscle disorders that cause transient weakness of the arms …
7,768 results