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1.
Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding.
Neurogenetics
; 22(1): 19-25, 2021 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-32816121
2.
Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies.
Am J Med Genet A
; 182(12): 2877-2886, 2020 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-33043602
3.
Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11.
Am J Med Genet A
; 176(9): 1991-1995, 2018 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-30088855
4.
Natural history and life-threatening complications in Myhre syndrome and review of the literature.
Eur J Pediatr
; 175(10): 1307-15, 2016 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-27562837
5.
Clinical Manifestations in a Girl with NAA10-Related Syndrome and Genotype-Phenotype Correlation in Females.
Genes (Basel)
; 12(6)2021 06 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-34200686
6.
Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White-Sutton Syndrome: Case Report and Review of the Literature.
Genes (Basel)
; 12(7)2021 06 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-34206215
7.
Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6.
Genes (Basel)
; 10(10)2019 10 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31614862
8.
Expanding phenotype of PRRT2 gene mutations: A new case with epilepsy and benign myoclonus of early infancy.
Eur J Paediatr Neurol
; 20(3): 454-6, 2016 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-26876767
9.
Endocrinological Abnormalities Are a Main Feature of 17p13.1 Microduplication Syndrome: A New Case and Literature Review.
Mol Syndromol
; 7(6): 337-343, 2016 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-27920637
10.
Clinical and polygraphic improvement of breathing abnormalities after valproate in a case of Pitt-Hopkins syndrome.
J Child Neurol
; 27(12): 1585-8, 2012 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-22378662
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