Works matching IS 15524825 AND DT 2016 AND VI 170A AND IP 8
Results: 41
Gene therapy for severe combined immune deficiency poised for European approval.
- Published in:
- 2016
- Publication type:
- Other
A de novo microtriplication at 4q21.21-q21.22 in a patient with a vascular malignant hemangioma, elongated sigmoid colon, developmental delay, and absence of speech.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2089, doi. 10.1002/ajmg.a.37754
- By:
- Publication type:
- Article
Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 1989, doi. 10.1002/ajmg.a.37757
- By:
- Publication type:
- Article
Table of Contents, Volume 170A, Number 8, August 2016.
- Published in:
- 2016
- Publication type:
- Other
Publication schedule for 2016.
- Published in:
- 2016
- Publication type:
- Other
Facial malformation atlas aims to aid diagnosis of genetic disorders in patients of non-European descent.
- Published in:
- 2016
- Publication type:
- Other
Mulibrey nanism: Two novel mutations in a child identified by Array CGH and DNA sequencing.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2196, doi. 10.1002/ajmg.a.37770
- By:
- Publication type:
- Article
GM3 synthase deficiency due to ST3GAL5 variants in two Korean female siblings: Masquerading as Rett syndrome-like phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2200, doi. 10.1002/ajmg.a.37773
- By:
- Publication type:
- Article
Quality of life, unmet needs, and iatrogenic injuries in rehabilitation of patients with Ehlers-Danlos Syndrome hypermobility type/Joint Hypermobility Syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2044, doi. 10.1002/ajmg.a.37774
- By:
- Publication type:
- Article
Etiologies of uterine malformations.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2141, doi. 10.1002/ajmg.a.37775
- By:
- Publication type:
- Article
Achondroplasia: Really rhizomelic?
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2039, doi. 10.1002/ajmg.a.37776
- By:
- Publication type:
- Article
Gastroschisis and maternal intake of phytoestrogens.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2078, doi. 10.1002/ajmg.a.37659
- By:
- Publication type:
- Article
Altered cerebrospinal fluid proteins in Smith-Lemli-Opitz syndrome patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2060, doi. 10.1002/ajmg.a.37720
- By:
- Publication type:
- Article
A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2002, doi. 10.1002/ajmg.a.37721
- By:
- Publication type:
- Article
SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 1967, doi. 10.1002/ajmg.a.37722
- By:
- Publication type:
- Article
The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 1959, doi. 10.1002/ajmg.a.37723
- By:
- Publication type:
- Article
Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2133, doi. 10.1002/ajmg.a.37724
- By:
- Publication type:
- Article
Behavioral functioning in cardiofaciocutaneous syndrome: Risk factors and impact on parenting experience.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 1974, doi. 10.1002/ajmg.a.37725
- By:
- Publication type:
- Article
First clinical report of an infant with microcephaly and CASC5 mutations.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2215, doi. 10.1002/ajmg.a.37726
- By:
- Publication type:
- Article
Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE).
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2181, doi. 10.1002/ajmg.a.37727
- By:
- Publication type:
- Article
Further delineation of FKBP14-related Ehlers-Danlos syndrome: A patient with early vascular complications and non-progressive kyphoscoliosis, and literature review.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2031, doi. 10.1002/ajmg.a.37728
- By:
- Publication type:
- Article
Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2173, doi. 10.1002/ajmg.a.37678
- By:
- Publication type:
- Article
A recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to Wilms tumor is caused by a mutation in FIBP gene.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2111, doi. 10.1002/ajmg.a.37741
- By:
- Publication type:
- Article
Is the diagnostic yield influenced by the indication for fetal autopsy?
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2119, doi. 10.1002/ajmg.a.37743
- By:
- Publication type:
- Article
Distinctive skeletal phenotype in high bone mass osteogenesis imperfecta due to a COL1A2 cleavage site mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2212, doi. 10.1002/ajmg.a.37744
- By:
- Publication type:
- Article
Ebstein anomaly, left ventricular non-compaction, and early onset heart failure associated with a de novo α-tropomyosin gene mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2186, doi. 10.1002/ajmg.a.37745
- By:
- Publication type:
- Article
Higher plasma orexin A levels in children with Prader-Willi syndrome compared with healthy unrelated sibling controls.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2097, doi. 10.1002/ajmg.a.37749
- By:
- Publication type:
- Article
Influence of hearing loss and cognitive abilities on language development in CHARGE Syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2022, doi. 10.1002/ajmg.a.37692
- By:
- Publication type:
- Article
Pregnancy after aortic root replacement in Loeys-Dietz syndrome: High risk of aortic dissection.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2177, doi. 10.1002/ajmg.a.37694
- By:
- Publication type:
- Article
'I'm Healthy, It's Not Going To Be Me': Exploring experiences of carriers identified through a population reproductive genetic carrier screening panel in Australia.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2052, doi. 10.1002/ajmg.a.37697
- By:
- Publication type:
- Article
Physical measurements of Chinese children in Hong Kong-A pilot study in preschools and kindergartens.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2069, doi. 10.1002/ajmg.a.37764
- By:
- Publication type:
- Article
A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2103, doi. 10.1002/ajmg.a.37765
- By:
- Publication type:
- Article
Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2127, doi. 10.1002/ajmg.a.37766
- By:
- Publication type:
- Article
Temporomandibular joint ankylosis as part of the clinical spectrum of Carey-Fineman-Ziter syndrome?
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2191, doi. 10.1002/ajmg.a.37767
- By:
- Publication type:
- Article
Gonadal mosaicism for ACTA1 gene masquerading as autosomal recessive nemaline myopathy.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2219, doi. 10.1002/ajmg.a.37768
- By:
- Publication type:
- Article
Quality of life in adolescents and adults with CHARGE syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2012, doi. 10.1002/ajmg.a.37769
- By:
- Publication type:
- Article
Cover Image, Volume 170A, Number 8, August 2016.
- Published in:
- 2016
- By:
- Publication type:
- Other
In this issue.
- Published in:
- 2016
- Publication type:
- Other
CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2206, doi. 10.1002/ajmg.a.37780
- By:
- Publication type:
- Article
Adolescents' preferences regarding disclosure of incidental findings in genomic sequencing that are not medically actionable in childhood.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2083, doi. 10.1002/ajmg.a.37730
- By:
- Publication type:
- Article
Hartsfield syndrome associated with a novel heterozygous missense mutation in FGFR1 and incorporating tumoral calcinosis.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2222, doi. 10.1002/ajmg.a.37731
- By:
- Publication type:
- Article