Works matching IS 15524825 AND DT 2017 AND VI 173 AND IP 1
Results: 45
Frederik Ruysch (1638-1731): Historical perspective and contemporary analysis of his teratological legacy.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 16, doi. 10.1002/ajmg.a.37663
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- Publication type:
- Article
Homozygous LIPE mutation in siblings with multiple symmetric lipomatosis, partial lipodystrophy, and myopathy.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 190, doi. 10.1002/ajmg.a.37880
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- Publication type:
- Article
Table of Contents & Publication Schedule, Volume 173A, Number 1, January 2017.
- Published in:
- 2017
- Publication type:
- Other
In this issue.
- Published in:
- 2017
- Publication type:
- Other
New SMARCA2 mutation in a patient with Nicolaides-Baraitser syndrome and myoclonic astatic epilepsy.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 195, doi. 10.1002/ajmg.a.37935
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- Publication type:
- Article
Growth charts for individuals with rhizomelic chondrodysplasia punctata.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 108, doi. 10.1002/ajmg.a.37961
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- Publication type:
- Article
A de novo missense mutation in the inositol 1,4,5-triphosphate receptor type 1 gene causing severe pontine and cerebellar hypoplasia: Expanding the phenotype of ITPR1-related spinocerebellar ataxia's.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 207, doi. 10.1002/ajmg.a.37962
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- Publication type:
- Article
Nance-Horan syndrome-The oral perspective on a rare disease.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 88, doi. 10.1002/ajmg.a.37963
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- Publication type:
- Article
A novel IGF2/H19 domain triplication in the 11p15.5 imprinting region causing either Beckwith-Wiedemann or Silver-Russell syndrome in a single family.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 72, doi. 10.1002/ajmg.a.37964
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- Publication type:
- Article
Further defining the critical genes for the 4q21 microdeletion disorder.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 120, doi. 10.1002/ajmg.a.37965
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- Publication type:
- Article
Phenotype of 7q11.23 duplication: A family clinical series.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 114, doi. 10.1002/ajmg.a.37966
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- Publication type:
- Article
Making extra teeth: Lessons from a TRPS1 mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 99, doi. 10.1002/ajmg.a.37967
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- Publication type:
- Article
Identification of 11p14.1-p15.3 deletion probably associated with short stature, relative macrocephaly, and delayed closure of the fontanelles.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 217, doi. 10.1002/ajmg.a.37978
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- Publication type:
- Article
Health-related quality of life in children with Robin sequence.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 54, doi. 10.1002/ajmg.a.37968
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- Publication type:
- Article
A novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase ( YARS) gene.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 126, doi. 10.1002/ajmg.a.37973
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- Publication type:
- Article
Marfan syndrome: Report of a complex phenotype due to a 15q21.1 contiguos gene deletion encompassing FBN1, and literature review.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 200, doi. 10.1002/ajmg.a.37975
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- Publication type:
- Article
A boy with partial dup(18q)/del(18p) due to a maternal pericentric inversion: Genotype-phenotype correlation and risk of recombinant chromosomes based on systematic review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 143, doi. 10.1002/ajmg.a.37976
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- Publication type:
- Article
Neuroligin 2 nonsense variant associated with anxiety, autism, intellectual disability, hyperphagia, and obesity.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 213, doi. 10.1002/ajmg.a.37977
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- Publication type:
- Article
Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 62, doi. 10.1002/ajmg.a.37969
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- Publication type:
- Article
Congenital diaphragmatic hernia in 22q11.2 deletion syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 135, doi. 10.1002/ajmg.a.37980
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- Publication type:
- Article
Familial deletion of the HOXA gene cluster associated with Hand-Foot-Genital syndrome and phenotypic variability.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 221, doi. 10.1002/ajmg.a.37981
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- Publication type:
- Article
Embryonic hypocellularity, blastogenetic malformations, and fetal growth restriction.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 151, doi. 10.1002/ajmg.a.37985
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- Publication type:
- Article
SDHA mutation with dominant transmission results in complex II deficiency with ocular, cardiac, and neurologic involvement.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 225, doi. 10.1002/ajmg.a.37986
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- Publication type:
- Article
Using a qualitative approach to conceptualize concerns of patients with neurofibromatosis type 1 associated plexiform neurofibromas (pNF) across the lifespan.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 79, doi. 10.1002/ajmg.a.37987
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- Publication type:
- Article
First evidence of Smith-Magenis syndrome in mother and daughter due to a novel RAI mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 231, doi. 10.1002/ajmg.a.37989
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- Publication type:
- Article
Middle ear abnormalities in Van Maldergem syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 239, doi. 10.1002/ajmg.a.37990
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- Publication type:
- Article
Mutation analysis of FGFR1-3 in 11 Japanese patients with syndromic craniosynostoses.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 157, doi. 10.1002/ajmg.a.37992
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- Publication type:
- Article
Description of a new oncogenic mechanism for atypical teratoid rhabdoid tumors in patients with ring chromosome 22.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 245, doi. 10.1002/ajmg.a.37993
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- Publication type:
- Article
Sudden infant death 'syndrome'-Insights and future directions from a Utah population database analysis.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 177, doi. 10.1002/ajmg.a.37994
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- Publication type:
- Article
Acute myeloid leukemia-associated DNMT3A p.Arg882His mutation in a patient with Tatton-Brown-Rahman overgrowth syndrome as a constitutional mutation.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 250, doi. 10.1002/ajmg.a.37995
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- Publication type:
- Article
Spondyloepiphyseal dysplasia Omani type: CHST3 mutation spectrum and phenotypes in three Indian families.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 163, doi. 10.1002/ajmg.a.37996
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- Publication type:
- Article
Familial Gordon syndrome associated with a PIEZO2 mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 254, doi. 10.1002/ajmg.a.37997
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- Publication type:
- Article
Phenotypic variability in patients with Fanconi anemia and biallelic FANCF mutations.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 260, doi. 10.1002/ajmg.a.37998
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- Publication type:
- Article
Smith-Kingsmore syndrome: A third family with the MTOR mutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 264, doi. 10.1002/ajmg.a.37999
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- Publication type:
- Article
A Marfan syndrome-like phenotype caused by a neocentromeric supernumerary ring chromosome 15.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 268, doi. 10.1002/ajmg.a.38000
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- Publication type:
- Article
Bicoronal and metopic craniosynostosis in association with a de novo unbalanced t(2;7) chromosomal translocation.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 274, doi. 10.1002/ajmg.a.38001
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- Publication type:
- Article
A 6.5 mb deletion at 3q24q25.2 narrows Wisconsin syndrome critical region to a 750 kb interval: A potential role for MBNLI.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 280, doi. 10.1002/ajmg.a.38002
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- Publication type:
- Article
Simpson-Golabi-Behmel syndrome in a female: A case report and an unsolved issue.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 285, doi. 10.1002/ajmg.a.38003
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- Publication type:
- Article
Advocates call for long-term extension of the FDA's rare pediatric disease priority review program.
- Published in:
- 2017
- Publication type:
- Other
Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 169, doi. 10.1002/ajmg.a.38004
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- Publication type:
- Article
Standing on the shoulders of giants.
- Published in:
- 2017
- By:
- Publication type:
- Editorial
Cover Image, Volume 173A, Number 1, January 2017.
- Published in:
- 2017
- By:
- Publication type:
- Other
Geneticists, health professionals suggest recasting requests to test children for adult-onset diseases.
- Published in:
- 2017
- Publication type:
- Other
KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 183, doi. 10.1002/ajmg.a.38010
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- Publication type:
- Article
Down syndrome in diverse populations.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 42, doi. 10.1002/ajmg.a.38043
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- Publication type:
- Article