Works matching IS 15524825 AND DT 2018 AND VI 176 AND IP 8
Results: 21
In This Issue.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 8, p. 1700, doi. 10.1002/ajmg.a.40629
- Publication type:
- Article
Cover Image, Volume 176A, Number 8, August 2018.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 8, p. 1, doi. 10.1002/ajmg.a.40529
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- Publication type:
- Article
Nucleic Acid–Targeted Small Molecules have Therapeutic Potential in the Treatment of Spinal Muscular Atrophy: Small‐molecule drugs that can selectively bind RNA and modulate pre‐mRNA splicing have potential as a treatment strategy for human disease, including spinal muscular atrophy
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 8, p. 1698, doi. 10.1002/ajmg.a.40520
- Publication type:
- Article
Formate Supplementation May Prevent Some Neural Tube Defects that Prove Resistant to Folic Acid: Supplementation with formate rescued normal neural tube closure in more than three quarters of the embryos of novel folic acid‐resistant neural tube defect mouse models
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 8, p. 1697, doi. 10.1002/ajmg.a.40519
- Publication type:
- Article
Cole‐Carpenter syndrome in a patient from Thailand.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 8, p. 1706, doi. 10.1002/ajmg.a.40358
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- Publication type:
- Article
Is exon 8 the most critical or the only dispensable exon of the VCAN gene? Insights into VCAN variants and clinical spectrum of Wagner syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 8, p. 1778, doi. 10.1002/ajmg.a.38855
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- Publication type:
- Article
Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 8, p. 1711, doi. 10.1002/ajmg.a.38854
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- Publication type:
- Article
Growth in achondroplasia: Development of height, weight, head circumference, and body mass index in a European cohort.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 8, p. 1723, doi. 10.1002/ajmg.a.38853
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- Publication type:
- Article
Pulmonary hypertension in patients with 9q34.3 microdeletion‐associated Kleefstra syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 8, p. 1773, doi. 10.1002/ajmg.a.38852
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- Publication type:
- Article
A case of severe TBCE‐negative hypoparathyroidism‐retardation‐dysmorphism syndrome: Case report and literature review.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 8, p. 1768, doi. 10.1002/ajmg.a.38851
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- Publication type:
- Article
Eduardo E. Castilla (1933–2017): El grande TROESMA*.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 8, p. 1701, doi. 10.1002/ajmg.a.38847
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- Publication type:
- Article
M. Michael Cohen, Jr.: Author, diagnostician, geneticist, teacher, mentor, syndrome scholar extraordinaire (1937–2018).
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 8, p. 1703, doi. 10.1002/ajmg.a.38845
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- Publication type:
- Article
A 69‐year‐old woman with Coffin–Siris syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 8, p. 1764, doi. 10.1002/ajmg.a.38844
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- Publication type:
- Article
Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 8, p. 1760, doi. 10.1002/ajmg.a.38843
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- Publication type:
- Article
A recognizable phenotype related to 19p13.12 microdeletion.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 8, p. 1753, doi. 10.1002/ajmg.a.38842
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- Publication type:
- Article
In reply to “Short‐rib syndrome Beemer‐Langer type, a short history”.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 8, p. 1784, doi. 10.1002/ajmg.a.38841
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- Publication type:
- Article
De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 8, p. 1748, doi. 10.1002/ajmg.a.38840
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- Publication type:
- Article
Expanding the fetal phenotype: Prenatal sonographic findings and perinatal outcomes in a cohort of patients with a confirmed 22q11.2 deletion syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 8, p. 1735, doi. 10.1002/ajmg.a.38665
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- Publication type:
- Article
Non‐pharmacological treatment of psychiatric disorders in individuals with 22q11.2 deletion syndrome; a systematic review.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 8, p. 1742, doi. 10.1002/ajmg.a.38612
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- Publication type:
- Article
Publication schedule for 2018.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 8, p. 1696, doi. 10.1002/ajmg.a.38443
- Publication type:
- Article
Table of Contents, Volume 176A, Number 8, August 2018.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 8, p. 1693, doi. 10.1002/ajmg.a.38442
- Publication type:
- Article