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Neonatology

Free Subscription Articles published in Hum Mutat Retrieve available abstracts of 9 articles: HTML format Text format

Single Articles

January 2012
1. TAN HL , Glen E, Topf A, Hall D, et al
   Non-synonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation.
   Hum Mutat. 2012 Jan 20. doi: 10.1002/humu.22030.
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2. DEPIENNE C , Leguern E
   PCDH19-related Infantile Epileptic Encephalopathy: An Unusual X-linked Inheritance Disorder.
   Hum Mutat. 2012 Jan 20. doi: 10.1002/humu.22029.
   PubMed     Text format     Related articles    Abstract available
   
   
   
   December 2011
3. THIEL C , Rind N, Popovici D, Hoffmann GF, et al
   Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip.
   Hum Mutat. 2011 Dec 29. doi: 10.1002/humu.22019.
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   September 2011
4. MALJEVIC S , Naros G, Yalcin O, Blazevic D, et al
   Temperature and pharmacological rescue of a folding-defective, dominant-negative K(V) 7.2 mutation associated with neonatal seizures.
   Hum Mutat. 2011 Sep 12. doi: 10.1002/humu.21554.
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5. WANG X , Wang H, Cao M, Li Z, et al
   Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with leber congenital amaurosis.
   Hum Mutat. 2011 Sep 7. doi: 10.1002/humu.21587.
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   June 2011
6. YAO K , Wang W, Zhu Y, Jin C, et al
   A novel GJA3 mutation associated with congenital nuclear pulverulent and posterior polar cataract in a Chinese family.
   Hum Mutat. 2011 Jun 16. doi: 10.1002/humu.21552.
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   April 2011
7. STEINER B , Rosendahl J, Witt H, Teich N, et al
   Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens.
   Hum Mutat. 2011 Apr 21. doi: 10.1002/humu.21511.
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   March 2011
8. WEDENOJA S , Pekansaari E, Hoglund P, Makela S, et al
   Update on SLC26A3 mutations in congenital chloride diarrhea.
   Hum Mutat. 2011 Mar 10. doi: 10.1002/humu.21498.
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9. WANG KJ , Wang S, Cao NQ, Yan YB, et al
   A novel mutation in CRYBB1 associated with congenital cataract-microcornea syndrome: the p.Ser129Arg mutation destabilizes the betaB1/betaA3-crystallin heteromer but not the betaB1-crystallin homomer.
   Hum Mutat. 2011;32:E2050-60.
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