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Growth hormone deficiency in megalencephaly‐capillary malformation syndrome: An association with activating mutations in PIK3CA.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 162, doi. 10.1002/ajmg.a.61403
By:
- Davis, Shanlee;
- Ware, Meredith A.;
- Zeiger, Jordan;
- Deardorff, Matthew A.;
- Grand, Katheryn;
- Grimberg, Adda;
- Hsu, Stephanie;
- Kelsey, Megan;
- Majidi, Shideh;
- Matthew, Revi P.;
- Napier, Melanie;
- Nokoff, Natalie;
- Prasad, Chitra;
- Riggs, Andrew C.;
- McKinnon, Margaret L.;
- Mirzaa, Ghayda
Publication type:
Article
Isolation, characterization, and chromosomal mapping of the human insulin promoter factor 1 (IPF-1) gene.
Published in:
1996
By:
- Inoue, Hiroshi;
- Riggs, Andrew C.;
- Tanizawa, Yukio;
- Ueda, Kohei;
- Kuwano, Akira;
- Li Liu;
- Donis-Keller, Helen;
- Permutt, M. Alan;
- Inoue, H;
- Riggs, A C;
- Tanizawa, Y;
- Ueda, K;
- Kuwano, A;
- Liu, L;
- Donis-Keller, H;
- Permutt, M A
Publication type:
journal article
Characterization of the LIM/homeodomain gene islet-1 and single nucleotide screening in NIDDM.
Published in:
1995
By:
- Riggs, Andrew C.;
- Tanizawa, Yukio;
- Aoki, Minoru;
- Wasson, Jon;
- Ferrer, Jorge;
- Rabin, Daniel U.;
- Vaxillaire, Martine;
- Froguel, Philippe;
- Permutt, M. Alan;
- Riggs, A C;
- Tanizawa, Y;
- Aoki, M;
- Wasson, J;
- Ferrer, J;
- Rabin, D U;
- Vaxillaire, M;
- Froguel, P;
- Permutt, M A
Publication type:
journal article
Isolation of the human LIM/homeodomain gene islet-1 and identification of a simple sequence repeat polymorphism [corrected].
Published in:
1994
By:
- Tanizawa, Yukio;
- Riggs, Andrew C.;
- Dagogo-Jack, Samuel;
- Vaxillaire, Martine;
- Froguel, Philippe;
- Li Liu;
- Donis-Keller, Helen;
- Permutt, M. Alan;
- Tanizawa, Y;
- Riggs, A C;
- Dagogo-Jack, S;
- Vaxillaire, M;
- Froguel, P;
- Liu, L;
- Donis-Keller, H;
- Permutt, M A
Publication type:
journal article
Human glucagon-like peptide-1 receptor gene in NIDDM. Identification and use of simple sequence repeat polymorphisms in genetic analysis.
Published in:
1994
By:
- Tanizawa, Yukio;
- Riggs, Andrew C.;
- Elbein, Steven C.;
- Whelan, Alison;
- Donis-Keller, Helen;
- Permutt, M. Alan;
- Tanizawa, Y;
- Riggs, A C;
- Elbein, S C;
- Whelan, A;
- Donis-Keller, H;
- Permutt, M A
Publication type:
journal article

Found: 5

Growth hormone deficiency in megalencephaly‐capillary malformation syndrome: An association with activating mutations in PIK3CA.

Isolation, characterization, and chromosomal mapping of the human insulin promoter factor 1 (IPF-1) gene.

Characterization of the LIM/homeodomain gene islet-1 and single nucleotide screening in NIDDM.

Isolation of the human LIM/homeodomain gene islet-1 and identification of a simple sequence repeat polymorphism [corrected].

Human glucagon-like peptide-1 receptor gene in NIDDM. Identification and use of simple sequence repeat polymorphisms in genetic analysis.