Works matching IS 15524825 AND DT 2018 AND VI 176 AND IP 7
Results: 31
In This Issue.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1544, doi. 10.1002/ajmg.a.40367
- Publication type:
- Article
Molecular Signature at Birth Associated With Genetic Burden for Autism.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1543, doi. 10.1002/ajmg.a.40366
- Publication type:
- Article
Cover Image, Volume 176A, Number 7, July 2018.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. i, doi. 10.1002/ajmg.a.40365
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- Article
Introducing in AJMG Part A: Case reports in diverse populations.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1547, doi. 10.1002/ajmg.a.40353
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- Article
Novel phenotype of achondroplasia due to biallelic FGFR3 pathogenic variants.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1675, doi. 10.1002/ajmg.a.38839
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- Publication type:
- Article
Diagnostic clarity of exome sequencing following negative comprehensive panel testing in the neonatal intensive care unit.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1688, doi. 10.1002/ajmg.a.38838
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- Article
MAP2K2 mutation as a cause of cardio‐facio‐cutaneous syndrome in an infant with a severe and fatal course of the disease.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1670, doi. 10.1002/ajmg.a.38837
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- Article
Ocular albinism with infertility and late‐onset sensorineural hearing loss.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1587, doi. 10.1002/ajmg.a.38836
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- Publication type:
- Article
A missense mutation in EBF2 was segregated with imperforate anus in a family across three generations.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1632, doi. 10.1002/ajmg.a.38722
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- Article
Systemic lupus erythematosus in a patient with Noonan syndrome‐like disorder with loose anagen hair 1: More than a chance association.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1662, doi. 10.1002/ajmg.a.38834
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- Article
Timothy syndrome‐like condition with syndactyly but without prolongation of the QT interval.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1657, doi. 10.1002/ajmg.a.38833
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- Publication type:
- Article
Further delineation of Aymé‐Gripp syndrome and use of automated facial analysis tool.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1648, doi. 10.1002/ajmg.a.38832
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- Publication type:
- Article
Two Angelman families with unusually advanced neurodevelopment carry a start codon variant in the most highly expressed UBE3A isoform.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1641, doi. 10.1002/ajmg.a.38831
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- Publication type:
- Article
The first reported case of an inherited pathogenic CHD2 variant in a clinically affected mother and daughter.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1667, doi. 10.1002/ajmg.a.38835
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- Article
Sleep disturbances in Rett syndrome: Impact and management including use of sleep hygiene practices.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1569, doi. 10.1002/ajmg.a.38829
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- Article
Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB‐related skeletal disorders in three fetuses and a 106‐year‐old exhibit.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1559, doi. 10.1002/ajmg.a.38828
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- Article
A sibling pair with cardiofaciocutaneous syndrome (CFC) secondary to BRAF mutation with unaffected parents—the first cases of gonadal mosaicism in CFC?
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1637, doi. 10.1002/ajmg.a.38725
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- Publication type:
- Article
KIF16B is a candidate gene for a novel autosomal‐recessive intellectual disability syndrome.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1602, doi. 10.1002/ajmg.a.38723
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- Publication type:
- Article
Novel PLS3 variants in X‐linked osteoporosis: Exploring bone material properties.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1578, doi. 10.1002/ajmg.a.38830
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- Article
Atypical presentations associated with non‐polyalanine repeat PHOX2B mutations.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1627, doi. 10.1002/ajmg.a.38720
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- Article
Autosomal‐dominant biventricular arrhythmogenic cardiomyopathy in a large family with a novel in‐frame DSP nonsense mutation.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1622, doi. 10.1002/ajmg.a.38719
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- Article
A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41‐q42 deletion phenotype.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1549, doi. 10.1002/ajmg.a.38712
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- Article
Acute lymphoblastic leukemia in a male with Simpson–Golabi–Behmel syndrome.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1680, doi. 10.1002/ajmg.a.38664
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- Publication type:
- Article
Tissue‐specific mosaicism in hereditary hemorrhagic telangiectasia: Implications for genetic testing in families.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1618, doi. 10.1002/ajmg.a.38695
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- Publication type:
- Article
Familial autosomal dominant severe ankyloglossia with tooth abnormalities.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1614, doi. 10.1002/ajmg.a.38690
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- Publication type:
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Current clinical evidence does not support a link between TBL1XR1 and Rett syndrome: Description of one patient with Rett features and a novel mutation in TBL1XR1, and a review of TBL1XR1 phenotypes.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1683, doi. 10.1002/ajmg.a.38689
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Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1610, doi. 10.1002/ajmg.a.38685
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Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1594, doi. 10.1002/ajmg.a.38707
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- Article
Hyperactive SHP2 Mutants Impair Chondrocyte Differentiation During Endochondral Bone Growth in Noonan Syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1546, doi. 10.1002/ajmg.a.38441
- Publication type:
- Article
Publication schedule for 2018.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1541, doi. 10.1002/ajmg.a.38440
- Publication type:
- Article
Table of Contents, Volume 176A, Number 7, July 2018.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1537, doi. 10.1002/ajmg.a.38439
- Publication type:
- Article