Found: 21
Select item for more details and to access through your institution.
Barriers in applying to genetic counseling Master's degree programs: Perceptions of prospective applicants when compared with Canadian admissions committee members.
- Published in:
- Journal of Genetic Counseling, 2023, v. 32, n. 4, p. 896, doi. 10.1002/jgc4.1698
- By:
- Publication type:
- Article
Experience with genetic counseling: the adolescent perspective.
- Published in:
- Journal of Genetic Counseling, 2016, v. 25, n. 3, p. 583, doi. 10.1007/s10897-015-9912-y
- By:
- Publication type:
- Article
Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker–Warburg syndrome.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 9, p. 1746, doi. 10.1093/hmg/ddt021
- By:
- Publication type:
- Article
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.
- Published in:
- Nature Genetics, 2012, v. 44, n. 3, p. 338, doi. 10.1038/ng.1084
- By:
- Publication type:
- Article
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.
- Published in:
- Nature Genetics, 2006, v. 38, n. 8, p. 910, doi. 10.1038/ng1842
- By:
- Publication type:
- Article
PLS3 Mutations in X-Linked Osteoporosis: Clinical and Bone Characteristics of Two Novel Mutations.
- Published in:
- Hormone Research in Paediatrics, 2017, v. 88, n. 3/4, p. 298, doi. 10.1159/000477242
- By:
- Publication type:
- Article
Cavum veli interpositi: prenatal diagnosis and postnatal outcome.
- Published in:
- 2005
- By:
- Publication type:
- journal article
Normal external genitalia in a female with classical congenital adrenal hyperplasia who was not treated during embryogenesis.
- Published in:
- 1998
- By:
- Publication type:
- journal article
The evolving features of Nicolaides-Baraitser syndrome - a clinical report of a 20-year follow-up.
- Published in:
- Clinical Case Reports, 2016, v. 4, n. 4, p. 351, doi. 10.1002/ccr3.425
- By:
- Publication type:
- Article
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis.
- Published in:
- Nature Genetics, 1999, v. 21, n. 3, p. 302, doi. 10.1038/6821
- By:
- Publication type:
- Article
CYP26B1-related disorder: expanding the ends of the spectrum through clinical and molecular evidence.
- Published in:
- Human Genetics, 2023, v. 142, n. 11, p. 1571, doi. 10.1007/s00439-023-02598-2
- By:
- Publication type:
- Article
Parental Preferences for Expanded Newborn Screening: What Are the Limits?
- Published in:
- Children, 2023, v. 10, n. 8, p. 1362, doi. 10.3390/children10081362
- By:
- Publication type:
- Article
Long QT, syndactyly, joint contractures, stroke and novel CACNA1C mutation: Expanding the spectrum of Timothy syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 182, doi. 10.1002/ajmg.a.34355
- By:
- Publication type:
- Article
Assessing the Informational Needs of Adolescents with a Genetic Condition: What Do They Want to Know?
- Published in:
- Journal of Genetic Counseling, 2007, v. 16, n. 2, p. 201, doi. 10.1007/s10897-006-9060-5
- By:
- Publication type:
- Article
45,X/46,XY mosaicism: Clinical manifestations and long term follow‐up.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63451
- By:
- Publication type:
- Article
De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2725, doi. 10.1002/ajmg.a.38352
- By:
- Publication type:
- Article
Interstitial deletion of 11q-implicating the KIRREL3 gene in the neurocognitive delay associated with Jacobsen syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2551, doi. 10.1002/ajmg.a.35621
- By:
- Publication type:
- Article
Middle and inner ear malformations in mutation-proven branchio-oculo-facial (BOF) syndrome: Case series and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 1977, doi. 10.1002/ajmg.a.35436
- By:
- Publication type:
- Article
XX male sex reversal with genital abnormalities associated with a de novo SOX3 gene duplication.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1759, doi. 10.1002/ajmg.a.35390
- By:
- Publication type:
- Article
The mutational spectrum of human malignant autosomal recessive osteopetrosis.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 17, p. 1767, doi. 10.1093/hmg/10.17.1767
- By:
- Publication type:
- Article
The mutational spectrum of human malignant autosomal recessive osteopetrosis.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 16, p. 1767, doi. 10.1093/hmg/10.17.1767
- By:
- Publication type:
- Article