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PubPharm (30)
1
Decoding Complex Inherited Phenotypes in Rare Disorders: The DECIPHERD initiative for rare undiagnosed diseases in Chile.
enthalten in:
ResearchSquare.com
| 2024
von
Repetto, G.
|
Poli, C.
|
Rebolledo-Jaramillo, B.
| +22
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2
Decoding complex inherited phenotypes in rare disorders : the DECIPHERD initiative for rare undiagnosed diseases in Chile
enthalten in:
European journal of human genetics : EJHG
| 2024
von
Poli, M.
|
Rebolledo-Jaramillo, B.
|
Lagos, C.
| +22
CommentIn: Eur J Hum Genet. 2024 Feb 13;:. - PMID 38351294
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3
Axenfeld-Rieger syndrome : more than meets the eye
enthalten in:
Journal of medical genetics
| 2023
von
Reis, L.
|
Maheshwari, M.
|
Capasso, J.
| +24
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4
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice
enthalten in:
JAMA neurology
| 2022
von
McKnight, D.
|
Morales, A.
|
Hatchell, K.
| +98
CommentIn: JAMA Neurol. 2022 Dec 1;79(12):1227-1228. - PMID 36315117
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5
Exome Sequencing Identifies Genetic Variants Associated with Extreme Manifestations of the Cardiovascular Phenotype in Marfan Syndrome
enthalten in:
Genes
| 2022
von
Jimenez, Y.
|
Paulsen, C.
|
Turner, E.
| +6
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6
Tenorio syndrome : Description of 14 novel cases and review of the clinical and molecular features
enthalten in:
Clinical genetics
| 2021
von
Tenorio-Castaño, J.
|
Arias, P.
|
Fernández-Jaén, A.
| +21
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7
Consensus of the Genetics Branch of the Chilean Society of Pediatrics on the prioritization of people with Down syndrome and rare diseases for vaccination against SARS-CoV-2
enthalten in:
Andes pediatrica : revista Chilena de pediatria
| 2021
von
Faundes, V.
|
Pardo, R.
|
Cammarata-Scalisi, F.
| +3
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8
Tenorio syndrome : Description of 14 novel cases and review of the clinical and molecular features
enthalten in:
Clinical Genetics
| 2021
von
Tenorio‐Castaño, J.
|
Arias, P.
|
Fernández‐Jaén, A.
| +21
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9
Skeletal dysplasias in Latin America
enthalten in:
American journal of medical genetics. Part C, Seminars in medical genetics
| 2020
von
Cavalcanti, D.
|
Fano, V.
|
Mellado, C.
| +10
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10
Severe SOPH syndrome due to a novel NBAS mutation in a 27-year-old woman-Review of this pleiotropic, autosomal recessive disorder : Mystery solved after two decades
enthalten in:
American journal of medical genetics. Part A
| 2020
von
Lacassie, Y.
|
Johnson, B.
|
Lay-Son, G.
| +11
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American journal of medical genetics. Part A
4
Journal of genetic counseling
2
American Journal of Medical Genetics Part C: Se...
2
Cancer genetics and cytogenetics
1
American journal of medical genetics / C
1
American journal of medical genetics. Part C, S...
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Andes pediatrica : revista Chilena de pediatria
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BMJ open
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ResearchSquare.com
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Thema
18
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12
Research Support, Non-U.S. Gov't
3
Cancer
3
Chile
3
Clinical genetics
3
Genetic counseling
2
Case Reports
2
Review
1
126880-72-6
1
570
1
935E97BOY8
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1
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1
BRCA1 Protein
1
BRCA2 Protein
1
Biology
1
COVID-19 Vaccines
1
Comparative Study
1
Congenital anomalies
1
Consensus Development Conference
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Erscheinungszeitraum
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2020-
14
2010-2019
5
2000-2009
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