Found: 24
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Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly.
- Published in:
- 2016
- By:
- Publication type:
- Letter
Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.
- Published in:
- Frontiers in Genetics, 2023, v. 14, p. 1, doi. 10.3389/fgene.2023.1099995
- By:
- Publication type:
- Article
Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome.
- Published in:
- Journal of Human Genetics, 2008, v. 53, n. 9, p. 834, doi. 10.1007/s10038-008-0320-0
- By:
- Publication type:
- Article
Absent CNKSR2 causes seizures and intellectual, attention, and language deficits.
- Published in:
- Annals of Neurology, 2014, v. 76, n. 5, p. 758, doi. 10.1002/ana.24274
- By:
- Publication type:
- Article
Novel Genetic and Phenotypic Expansion in Ameliorated PUF60 -Related Disorders.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 4, p. 2053, doi. 10.3390/ijms25042053
- By:
- Publication type:
- Article
Gnathodiaphyseal dysplasia: Diagnostic clues from two fetal cases and literature review.
- Published in:
- Prenatal Diagnosis, 2024, v. 44, n. 9, p. 1098, doi. 10.1002/pd.6631
- By:
- Publication type:
- Article
COL4A1/COL4A2 and inherited platelet disorder gene variants in fetuses showing intracranial hemorrhage.
- Published in:
- Prenatal Diagnosis, 2022, v. 42, n. 5, p. 601, doi. 10.1002/pd.6113
- By:
- Publication type:
- Article
Severe X-linked chondrodysplasia punctata in nine new female fetuses.
- Published in:
- Prenatal Diagnosis, 2015, v. 35, n. 7, p. 675, doi. 10.1002/pd.4591
- By:
- Publication type:
- Article
A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria.
- Published in:
- Genes, 2021, v. 12, n. 8, p. 1275, doi. 10.3390/genes12081275
- By:
- Publication type:
- Article
Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 9, p. 959, doi. 10.1038/ejhg.2011.71
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- Publication type:
- Article
Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2017, v. 175, n. 4, p. 417, doi. 10.1002/ajmg.c.31591
- By:
- Publication type:
- Article
Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication–deletion: Genotype–phenotype correlation for anomalies of the corpus callosum.
- Published in:
- Clinical Genetics, 2022, v. 101, n. 3, p. 307, doi. 10.1111/cge.14096
- By:
- Publication type:
- Article
Neuropsychological study in 19 French patients with White‐Sutton syndrome and POGZ mutations.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 3, p. 407, doi. 10.1111/cge.13894
- By:
- Publication type:
- Article
Parenting stress and needs for social support in mothers and fathers of deaf or hard of hearing children.
- Published in:
- Frontiers in Psychology, 2023, p. 1, doi. 10.3389/fpsyg.2023.1229420
- By:
- Publication type:
- Article
Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky–Pudlak syndrome.
- Published in:
- Pigment Cell & Melanoma Research, 2021, v. 34, n. 1, p. 132, doi. 10.1111/pcmr.12915
- By:
- Publication type:
- Article
Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS).
- Published in:
- Human Mutation, 2005, v. 26, n. 2, p. 113, doi. 10.1002/humu.20193
- By:
- Publication type:
- Article
Sensorineural hearing loss in OPA1-linked disorders.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 7, p. e236, doi. 10.1093/brain/aws340
- By:
- Publication type:
- Article
Next‐generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy.
- Published in:
- Human Mutation, 2020, v. 41, n. 12, p. 2167, doi. 10.1002/humu.24132
- By:
- Publication type:
- Article
Expanding the KIF4A‐associated phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3728, doi. 10.1002/ajmg.a.62443
- By:
- Publication type:
- Article
New intragenic rearrangements in non-Finnish mulibrey nanism.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2782, doi. 10.1002/ajmg.a.38381
- By:
- Publication type:
- Article
WAGR syndrome and congenital hypothyroidism in a child with a Mosaic 11p13 deletion.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1690, doi. 10.1002/ajmg.a.38206
- By:
- Publication type:
- Article
Clinical and molecular delineation of Tetrasomy 9p syndrome: Report of 12 new cases and literature review.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1252, doi. 10.1002/ajmg.a.36932
- By:
- Publication type:
- Article
Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 671, doi. 10.1002/ajmg.a.35747
- By:
- Publication type:
- Article
Possible association between complex congenital heart defects and 11p15 hypomethylation in three patients with severe Silver-Russell syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 572, doi. 10.1002/ajmg.a.35691
- By:
- Publication type:
- Article