Works matching IS 15524825 AND DT 2017 AND VI 173 AND IP 12
Results: 26
Two novel mutations in XYLT2 cause spondyloocular syndrome.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3195, doi. 10.1002/ajmg.a.38470
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- Article
Biallelic mutations in GPD1 gene in a Chinese boy mainly presented with obesity, insulin resistance, fatty liver, and short stature.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3189, doi. 10.1002/ajmg.a.38473
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- Article
Cryptographic Strategy Could Deliver Better Genomic Privacy.
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- 2017
- Publication type:
- Other
In this issue.
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- 2017
- Publication type:
- Other
Cover Image, Volume 173A, Number 12, December 2017.
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- 2017
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- Publication type:
- Other
Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3136, doi. 10.1002/ajmg.a.38490
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- Article
Novel mutations in the LRP5 gene in patients with Osteoporosis-pseudoglioma syndrome.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3132, doi. 10.1002/ajmg.a.38491
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- Article
Homozygous indel mutation in CDH11 as the probable cause of Elsahy-Waters syndrome.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3143, doi. 10.1002/ajmg.a.38495
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- Article
Mutations of KIF5C cause a neurodevelopmental disorder of infantile-onset epilepsy, absent language, and distinctive malformations of cortical development.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3127, doi. 10.1002/ajmg.a.38496
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- Article
Beyond Down syndrome phenotype: Paternally derived isodicentric chromosome 21 with partial monosomy 21q22.3.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3153, doi. 10.1002/ajmg.a.38497
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- Article
Aneurysmal bone cysts and pathologic fracture associated with supernumerary ring chromosome 6 in two unrelated patients.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3205, doi. 10.1002/ajmg.a.38498
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- Article
Defective ciliogenesis in INPP5E-related Joubert syndrome.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3231, doi. 10.1002/ajmg.a.38376
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- Article
'Minimal' holoprosencephaly in a 14q deletion syndrome patient.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3216, doi. 10.1002/ajmg.a.38378
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- Article
Biallelicframeshift mutation in RIN2 in a patient with intellectual disability and cataract, without RIN2 syndrome.
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- 2017
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- Publication type:
- Other
Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: A four patient series.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3158, doi. 10.1002/ajmg.a.38460
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- Publication type:
- Article
De novo SETD5 loss-of-function variant as a cause for intellectual disability in a 10-year old boy with an aberrant blind ending bronchus.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3165, doi. 10.1002/ajmg.a.38461
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- Article
FOXP1 haploinsufficiency: Phenotypes beyond behavior and intellectual disability?
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3172, doi. 10.1002/ajmg.a.38462
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- Article
Chimerism for 20q11.2 microdeletion of GDF5 explains discordant phenotypes in monochorionic-diamniotic twins.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3182, doi. 10.1002/ajmg.a.38463
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- Article
Peeling skin syndrome associated with novel variant in FLG2 gene.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3201, doi. 10.1002/ajmg.a.38468
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- Article
A novel missense variant in the GLI3 zinc finger domain in a family with digital anomalies.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3221, doi. 10.1002/ajmg.a.38415
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- Article
Table of Contents, Volume 173A, Number 12, December 2017.
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- 2017
- Publication type:
- Other
Publication schedule for 2017.
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- 2017
- Publication type:
- Other
Study Points to Value of Genetic Testing in Epilepsy.
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- 2017
- Publication type:
- Other
STAR syndrome plus: The first description of a female patient with the lethal form.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3226, doi. 10.1002/ajmg.a.38484
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- Article
Type 2 Gaucher disease in an infant despite a normal maternal glucocerebrosidase gene.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3211, doi. 10.1002/ajmg.a.38487
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- Article
Corrigendum: Psychiatric and psychological aspects in the Ehlers-Danlos syndromes.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3241, doi. 10.1002/ajmg.a.38488
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- Article