Found: 11
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Prenatal cerebral imaging features of a new syndromic entity related to KIAA1109 pathogenic variants mimicking tubulinopathy.
- Published in:
- Prenatal Diagnosis, 2020, v. 40, n. 2, p. 276, doi. 10.1002/pd.5589
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- Publication type:
- Article
Prenatal cerebral imaging features of a new syndromic entity related to KIAA1109 pathogenic variants mimicking tubulinopathy.
- Published in:
- 2020
- By:
- Publication type:
- letter
A novel genetic variant in the transcription factor Islet-1 exerts gain of function on myocyte enhancer factor 2C promoter activity.
- Published in:
- 2013
- By:
- Publication type:
- Journal Article
A novel genetic variant in the transcription factor Islet-1 exerts gain of function on myocyte enhancer factor 2C promoter activity.
- Published in:
- European Journal of Heart Failure, 2013, v. 15, n. 3, p. 267, doi. 10.1093/eurjhf/hfs178
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- Publication type:
- Article
Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 333, doi. 10.1002/ajmg.a.34401
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- Publication type:
- Article
Cerebral dysgenesis does not exclude OFD I syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 2, p. 455, doi. 10.1002/ajmg.a.33812
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- Publication type:
- Article
De Novo Duplication in the CHD7 Gene Associated With Severe CHARGE Syndrome.
- Published in:
- Genomics Insights, 2019, v. 12, p. 1, doi. 10.1177/1178631019839010
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- Publication type:
- Article
Pathogenic homozygous variant in POMK gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian families.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 536, doi. 10.1002/ajmg.a.61453
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- Publication type:
- Article
Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS 13 B mutations.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 522, doi. 10.1002/ajmg.a.36300
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- Publication type:
- Article
Additional evidence to support the role of the 20q13.33 region in susceptibility to autism.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1505, doi. 10.1002/ajmg.a.35878
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- Publication type:
- Article
De novo splice site variant of ARID1B associated with pathogenesis of Coffin–Siris syndrome.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 12, p. N.PAG, doi. 10.1002/mgg3.1006
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- Publication type:
- Article