Found: 24
Select item for more details and to access through your institution.
The recurrent TUBB3 Gly98Ser substitution is the first described to inconsistently result in CFEOM3.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2161, doi. 10.1002/ajmg.a.61747
- By:
- Publication type:
- Article
In memory of Murray Feingold (1930-2015).
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1727, doi. 10.1002/ajmg.a.37729
- By:
- Publication type:
- Article
Myhre Syndrome: Clinical Features and Restrictive Cardiopulmonary Complications.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 2893, doi. 10.1002/ajmg.a.37273
- By:
- Publication type:
- Article
Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2240, doi. 10.1002/ajmg.a.36633
- By:
- Publication type:
- Article
Duplication of 20qter and deletion of 20pter due to paternal pericentric inversion: Patient report and review of 20qter duplications.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 2020, doi. 10.1002/ajmg.a.34020
- By:
- Publication type:
- Article
Occurrence of nephroblastomatosis with dup(18)(q11.2-q23) implicates trisomy 18 tumor screening protocol in select patients with 18q duplication.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 4, p. 1079, doi. 10.1002/ajmg.a.36432
- By:
- Publication type:
- Article
Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 320, doi. 10.1002/ajmg.a.35817
- By:
- Publication type:
- Article
SMARCAL1 deficiency predisposes to non-Hodgkin lymphoma and hypersensitivity to genotoxic agents in vivo.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2204, doi. 10.1002/ajmg.a.35532
- By:
- Publication type:
- Article
Characterization of six novel patients with MECP2 duplications due to unbalanced rearrangements of the X chromosome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1285, doi. 10.1002/ajmg.a.35347
- By:
- Publication type:
- Article
Prenatal diagnosis of congenital adrenal hyperplasia caused by P450 oxidoreductase deficiency.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Turner syndrome.
- Published in:
- ENT: Ear, Nose & Throat Journal, 1998, v. 77, n. 10, p. 812, doi. 10.1177/014556139807701006
- By:
- Publication type:
- Article
Kabuki Syndrome.
- Published in:
- ENT: Ear, Nose & Throat Journal, 1998, v. 77, n. 9, p. 734, doi. 10.1177/014556139807700909
- By:
- Publication type:
- Article
Oto-palatal-digital syndromes.
- Published in:
- ENT: Ear, Nose & Throat Journal, 1998, v. 77, n. 8, p. 586, doi. 10.1177/014556139807700806
- By:
- Publication type:
- Article
Opitz Syndrome (G/BBB Syndrome).
- Published in:
- ENT: Ear, Nose & Throat Journal, 1998, v. 77, n. 7, p. 528, doi. 10.1177/014556139807700706
- By:
- Publication type:
- Article
Velocardiofacial syndrome (Shprintzen syndrome, chromosome 22q11 deletion syndrome).
- Published in:
- ENT: Ear, Nose & Throat Journal, 1998, v. 77, n. 6, p. 460, doi. 10.1177/014556139807700607
- By:
- Publication type:
- Article
Pallister-Hall syndrome.
- Published in:
- ENT: Ear, Nose & Throat Journal, 1998, v. 77, n. 5, p. 370, doi. 10.1177/014556139807700506
- By:
- Publication type:
- Article
Waardenburg syndrome.
- Published in:
- ENT: Ear, Nose & Throat Journal, 1998, v. 77, n. 4, p. 257, doi. 10.1177/014556139807700405
- By:
- Publication type:
- Article
Branchio-oto-renal Syndrome (BOR Syndrome, Melnick-Fraser Syndrome).
- Published in:
- ENT: Ear, Nose & Throat Journal, 1998, v. 77, n. 3, p. 172, doi. 10.1177/014556139807700305
- By:
- Publication type:
- Article
Craniofrontonasal Dysplasia.
- Published in:
- ENT: Ear, Nose & Throat Journal, 1998, v. 77, n. 2, p. 90, doi. 10.1177/014556139807700205
- By:
- Publication type:
- Article
Oculo-auriculo-vertebral spectrum.
- Published in:
- ENT: Ear, Nose & Throat Journal, 1998, v. 77, n. 1, p. 17, doi. 10.1177/014556139807700105
- By:
- Publication type:
- Article
Van der Woude syndrome.
- Published in:
- ENT: Ear, Nose & Throat Journal, 1997, v. 76, n. 12, p. 852, doi. 10.1177/014556139707601204
- By:
- Publication type:
- Article
Oral-Facial-Digital Syndrome Type I.
- Published in:
- ENT: Ear, Nose & Throat Journal, 1997, v. 76, n. 11, p. 778, doi. 10.1177/014556139707601104
- By:
- Publication type:
- Article
Stickler syndrome.
- Published in:
- ENT: Ear, Nose & Throat Journal, 1997, v. 76, n. 10, p. 706, doi. 10.1177/014556139707601005
- By:
- Publication type:
- Article
Robin sequence.
- Published in:
- ENT: Ear, Nose & Throat Journal, 1997, v. 76, n. 9, p. 620, doi. 10.1177/014556139707600904
- By:
- Publication type:
- Article