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1.
Zimmermann-Laband syndrome in monozygotic twins with a mild neurobehavioral phenotype lacking gingival overgrowth-A case report of a novel KCNN3 gene variant.
Am J Med Genet A
; 188(4): 1083-1087, 2022 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-34907639
2.
Modeling age-specific facial development in Williams-Beuren-, Noonan-, and 22q11.2 deletion syndromes in cohorts of Czech patients aged 3-18 years: A cross-sectional three-dimensional geometric morphometry analysis of their facial gestalt.
Am J Med Genet A
; 176(12): 2604-2613, 2018 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-30380201
3.
Body mass index is an overlooked confounding factor in existing clustering studies of 3D facial scans of children with autism spectrum disorder.
Sci Rep
; 14(1): 9873, 2024 04 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-38684768
4.
A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype-phenotype correlation.
Mol Genet Genomic Med
; 11(6): e2154, 2023 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-36840359
5.
Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative.
Front Genet
; 10: 611, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-31417602
6.
Three-dimensional assessment of facial asymmetry in preschool patients with orofacial clefts after neonatal cheiloplasty.
Int J Pediatr Otorhinolaryngol
; 108: 40-45, 2018 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-29605363
7.
Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype.
Eur J Med Genet
; 61(6): 315-321, 2018 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-29307790
8.
A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy - case report and review of the literature.
Mol Cytogenet
; 11: 29, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-29760779
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