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Search Results to Roberto Mendoza

This is a "connection" page, showing the details of why an item matched the keywords from your search.

                     
                     

One or more keywords matched the following items that are connected to Mendoza-Londono, Roberto

Item TypeName
Concept Chromosomes, Human, Pair 15
Concept Chromosomes, Human, X
Concept Chromosomes, Human, Pair 12
Concept Chromosomes, Human, Pair 16
Concept Chromosomes, Human, Pair 17
Concept Chromosome Banding
Concept Chromosomes, Human
Concept Chromosomes, Human, Pair 1
Concept Chromosomes, Human, Pair 3
Concept Chromosome Duplication
Concept Chromosomes, Human, Pair 4
Concept Chromosomes, Human, Pair 21
Concept Chromosome Mapping
Concept Chromosome Aberrations
Concept Chromosome Deletion
Concept Chromosomes, Human, Pair 7
Concept Chromosomes, Human, Pair 6
Concept Chromosomes, Human, Pair 2
Concept X Chromosome
Concept Chromosome Disorders
Concept Chromosomes, Human, Pair 22
Academic Article Omphalocele in trisomy 3q: further delineation of phenotype.
Academic Article Attenuated phenotype in a child with trisomy for 1q due to unbalanced X;1 translocation [46,X,der(X),t(X;1)(q28;q32.1)].
Academic Article Acute lymphoblastic leukemia in a patient with Greig cephalopolysyndactyly and interstitial deletion of chromosome 7 del(7)(p11.2 p14) involving the GLI3 and ZNFN1A1 genes.
Academic Article Characterization of a new syndrome that associates craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, and skin eruption: CDAGS.
Academic Article Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype.
Academic Article Smith-Magenis syndrome and Moyamoya disease in a patient with del(17)(p11.2p13.1).
Academic Article Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification.
Academic Article De novo three-way chromosome translocation 46,XY,t(4;6;21)(p16;p21.1;q21) in a male with cleidocranial dysplasia.
Academic Article Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reporting.
Academic Article Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes.
Academic Article Severe intellectual disability and autistic features associated with microduplication 2q23.1.
Academic Article Definition of a critical genetic interval related to kidney abnormalities in the Potocki-Lupski syndrome.
Academic Article Osteopathia striata with cranial sclerosis and developmental delay in a male with a mosaic deletion in chromosome region Xq11.2.
Academic Article Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.
Academic Article Clinical characteristics in patients with interstitial deletions of chromosome region 12q21-q22 and identification of a critical region associated with keratosis pilaris.
Academic Article 15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes.
Academic Article Severe rhizomelic shortening in a child with a complex duplication/deletion rearrangement of chromosome X.
Academic Article A Colombian family with X-linked juvenile retinoschisis with three affected females finding of a frameshift mutation.
Academic Article Stable transmission of an unbalanced chromosome 21 derived from chromoanasynthesis in a patient with a SYNGAP1 likely pathogenic variant.
Academic Article Novel c.G630A TCIRG1 mutation causes aberrant splicing resulting in an unusually mild form of autosomal recessive osteopetrosis.
Academic Article 16q22.1 microdeletion and anticipatory guidance.

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  • Chromosomes