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Author/Creator Hirschhorn, Joel N.

1. Functional Significance of Single Nucleotide Polymorphisms in the Lactase Gene in Diverse US Patients and Evidence for a Novel Lactase Persistence Allele at −13909 in Those of European Ancestry. Issue 2 (February 2015)

Authors:
Baffour-Awuah, Nana Yaa; Fleet, Sarah; Montgomery, Robert K.; Baker, Susan S.; Butler, Johannah L.; Campbell, Catarina; Tischfield, Samuel; Mitchell, Paul D.; Allende-Richter, Sophie; Moon, Jennifer E.; Fishman, Laurie; Bousvaros, Athos; Fox, Victor; Kuokkanen, Mikko; Grand, Richard J.; Hirschhor...
Journal:
Journal of pediatric gastroenterology and nutrition
Issue:
Volume 60:Issue 2(2015)
Page Start:
Record Type:
Journal Article
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2. Functional Significance of Single Nucleotide Polymorphisms in the Lactase Gene in Diverse US Patients and Evidence for a Novel Lactase Persistence Allele at −13909 in Those of European Ancestry. Issue 2 (February 2015)

Authors:
Baffour-Awuah, Nana Yaa; Fleet, Sarah; Montgomery, Robert K.; Baker, Susan S.; Butler, Johannah L.; Campbell, Catarina; Tischfield, Samuel; Mitchell, Paul D.; Allende-Richter, Sophie; Moon, Jennifer E.; Fishman, Laurie; Bousvaros, Athos; Fox, Victor; Kuokkanen, Mikko; Grand, Richard J.; Hirschhor...
Journal:
Journal of pediatric gastroenterology and nutrition
Issue:
Volume 60:Issue 2(2015)
Page Start:
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index. (24th November 2015)

Authors:
Felix, Janine F.; Bradfield, Jonathan P.; Monnereau, Claire; van der Valk, Ralf J.P.; Stergiakouli, Evie; Chesi, Alessandra; Gaillard, Romy; Feenstra, Bjarke; Thiering, Elisabeth; Kreiner-Møller, Eskil; Mahajan, Anubha; Pitkänen, Niina; Joro, Raimo; Cavadino, Alana; Huikari, Ville; Franks, Steve;...
Other Names:
author non-byline.; Kalkwarf Heidi J. author non-byline.; Lappe Joan M. author non-byline.; Gilsanz Vicente author non-byline.; Oberfield Sharon E. author non-byline.; Shepherd John A. author non-byline.; Kelly Andrea author non-byline.; Zemel Babette S. author non-byline.
Journal:
Human molecular genetics
Issue:
Volume 25:Number 2(2016:Jan. 15)
Page Start:
389
Record Type:
Journal Article
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5. Heterozygous Mutations in Natriuretic Peptide Receptor‐B (NPR2) Gene as a Cause of Short Stature. Issue 4 (16th March 2015)

Authors:
Wang, Sophie R.; Jacobsen, Christina M.; Carmichael, Heather; Edmund, Aaron B.; Robinson, Jerid W.; Olney, Robert C.; Miller, Timothy C.; Moon, Jennifer E.; Mericq, Veronica; Potter, Lincoln R.; Warman, Matthew L.; Hirschhorn, Joel N.; Dauber, Andrew
Journal:
Human mutation
Issue:
Volume 36:Issue 4(2015:Apr.)
Page Start:
474
Record Type:
Journal Article
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7. Redefining the progeroid form of ehlers–danlos syndrome: Report of the fourth patient with B4GALT7 deficiency and review of the literature. Issue 10 (16th August 2013)

Authors:
Guo, Michael H.; Stoler, Joan; Lui, Julian; Nilsson, Ola; Bianchi, Diana W.; Hirschhorn, Joel N.; Dauber, Andrew
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 10(2013:Oct.)
Page Start:
2519
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗