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Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding.
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- Neurogenetics, 2021, v. 22, n. 1, p. 19, doi. 10.1007/s10048-020-00625-2
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- Article
Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the DLX5/6 Genes.
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- Genes, 2023, v. 14, n. 8, p. 1526, doi. 10.3390/genes14081526
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- Article
Multiple sulfatase deficiency with neonatal manifestation.
- Published in:
- Italian Journal of Pediatrics, 2014, v. 40, n. 1, p. 1, doi. 10.1186/s13052-014-0086-2
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- Article
Incontinentia Pigmenti: Learning Disabilities Are a Fundamental Hallmark of the Disease.
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- PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0087771
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- Article
Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome and WNT7A mutations: Genetic homogeneity and nosological delineation.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 2, p. 332, doi. 10.1002/ajmg.a.33793
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- Article
Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypes.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1166, doi. 10.1002/ajmg.a.38652
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- Article
Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC-C loci.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2894, doi. 10.1002/ajmg.a.36259
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- Article
Focal dermal hypoplasia (goltz-gorlin syndrome): A new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomaly.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1750, doi. 10.1002/ajmg.a.35964
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- Article
Epilepsy in Mowat-Wilson syndrome: Delineation of the electroclinical phenotype.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 273, doi. 10.1002/ajmg.a.35717
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- Article
Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: The diagnostic value of rib malformations and index nail and finger hypoplasia.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2245, doi. 10.1002/ajmg.a.35474
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- Article