Detalles de la búsqueda
1.
Interstitial 2q24.2q24.3 Microdeletion: Two New Cases with Similar Clinical Features with the Exception of Profound Deafness.
Cytogenet Genome Res
; 162(3): 132-139, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35896065
2.
Clinical and Molecular Characterization of Two Patients with CNTN6 Copy Number Variations.
Cytogenet Genome Res
; 156(3): 144-149, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-30508811
3.
Intragenic Microdeletion of ULK4 and Partial Microduplication of BRWD3 in Siblings with Neuropsychiatric Features and Obesity.
Cytogenet Genome Res
; 156(1): 14-21, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-30086552
4.
Characterization of the Phenotype Associated with Microduplication Reciprocal to NF1 Microdeletion Syndrome.
Cytogenet Genome Res
; 152(1): 22-28, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-28605748
5.
Clinical and Molecular Cytogenetic Characterization of a de novo Interstitial 1p31.1p31.3 Deletion in a Boy with Moderate Intellectual Disability and Severe Language Impairment.
Cytogenet Genome Res
; 146(1): 39-43, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-26112959
6.
An example of parenchymal renal sparing in the context of complex malformations due to a novel mutation in the PBX1 gene.
Birth Defects Res
; 114(12): 674-681, 2022 07 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-35751431
7.
Expanding the phenotype associated with interstitial 6p25.1p24.3 microdeletion: a new case and review of the literature.
J Genet
; 1002021.
Artículo
en Inglés
| MEDLINE | ID: mdl-33707360
8.
Neurodevelopmental Disorders in Patients With Complex Phenotypes and Potential Complex Genetic Basis Involving Non-Coding Genes, and Double CNVs.
Front Genet
; 12: 732002, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34621295
9.
1p31.1 microdeletion including only NEGR1 gene in two patients.
Eur J Med Genet
; 63(6): 103919, 2020 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-32209393
10.
'Distal 16p12.2 microdeletion' in a patient with autosomal recessive deafness-22.
J Genet
; 98(2)2019 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-31204719
11.
Intragenic duplication of KCNQ5 gene results in aberrant splicing leading to a premature termination codon in a patient with intellectual disability.
Eur J Med Genet
; 62(9): 103555, 2019 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-30359776
12.
3q29 microduplication syndrome: Description of two new cases and delineation of the minimal critical region.
Eur J Med Genet
; 61(8): 428-433, 2018 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-29501613
13.
Atypical presentation of Dent disease in a patient with interstitial Xp11.22 deletion.
J Nephrol
; 34(6): 2111-2115, 2021 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-33420968
14.
Clinico-radiological and molecular characterization of a child with ring chromosome 2 presenting growth failure, microcephaly, kidney and brain malformations.
Mol Cytogenet
; 8: 17, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-25774222
15.
Phenotypic and genetic characterization of a patient with a de novo interstitial 14q24.1q24.3 deletion.
Mol Cytogenet
; 7: 49, 2014.
Artículo
en Inglés
| MEDLINE | ID: mdl-25076984
16.
RORB gene and 9q21.13 microdeletion: report on a patient with epilepsy and mild intellectual disability.
Eur J Med Genet
; 57(1): 44-6, 2014 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-24355400
17.
Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children.
Orphanet J Rare Dis
; 6: 12, 2011 Apr 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-21457564
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