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1.
A patient with a novel pathogenic variant in COL5A1 exhibiting prominent vascular and cardiac features.
Am J Med Genet A
; 188(7): 2192-2197, 2022 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-35396906
2.
Poirier-Bienvenu neurodevelopmental syndrome: A report of a patient with a pathogenic variant in CSNK2B with abnormal linear growth.
Am J Med Genet A
; 185(2): 539-543, 2021 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-33166063
3.
Molecular Modeling and Phenotypic Description of a Patient with a Novel Exonic Deletion of GALNS with Resultant Morquio Syndrome with Two Successful Pregnancies.
Mol Syndromol
; 13(4): 282-289, 2022 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-36158053
4.
Clinical description & molecular modeling of novel MAX pathogenic variant causing pheochromocytoma in family, supports paternal parent-of-origin effect.
Cancer Genet
; 252-253: 107-110, 2021 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-33493868
5.
Application of the community dialogues method to identify ethical values and priorities related to pharmacogenomics.
Pharmacogenomics
; 22(11): 693-701, 2021 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-34114883
6.
A Report of a Novel Pathogenic Variant in a Family with Buschke-Ollendorf Syndrome.
J Pediatr Genet
; 9(1): 63-65, 2020 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-31976147
7.
Novel COL11A2 Pathogenic Variants in a Child with Autosomal Recessive Otospondylomegaepiphyseal Dysplasia: A Review of the Literature.
J Pediatr Genet
; 9(2): 117-120, 2020 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-32341816
8.
Novel Pathogenic Variant in the Cys110 Residue: A Genotype-Phenotype Report of a Patient with Norrie Disease.
J Pediatr Genet
; 9(2): 142-144, 2020 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-32341821
9.
Co-occurrence of a novel PDGFRB variant and likely pathogenic variant in CASR in an individual with extensive intracranial calcifications and hypocalcaemia.
Clin Case Rep
; 6(1): 8-13, 2018 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29375828
10.
Palpitations and Asthenia Associated with Venlafaxine in a CYP2D6 Poor Metabolizer and CYP2C19 Intermediate Metabolizer.
Case Rep Genet
; 2017: 6236714, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-29123929
11.
Maple syrup urine disease: mechanisms and management.
Appl Clin Genet
; 10: 57-66, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-28919799
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