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Effect of early postpartum teaching on primiparas' knowledge of infant behavior and degree of confidence.
Published in:
Research in Nursing & Health, 1986, v. 9, n. 3, p. 209, doi. 10.1002/nur.4770090305
By:
- Golas, Gretchen A.;
- Parks, Peggy
Publication type:
Article
A novel AVPR2 splice site mutation leads to partial X-linked nephrogenic diabetes insipidus in two brothers.
Published in:
2016
By:
- Schernthaner-Reiter, Marie;
- Adams, David;
- Trivellin, Giampaolo;
- Ramnitz, Mary;
- Raygada, Margarita;
- Golas, Gretchen;
- Faucz, Fabio;
- Nilsson, Ola;
- Nella, Aikaterini;
- Dileepan, Kavitha;
- Lodish, Maya;
- Lee, Paul;
- Tifft, Cynthia;
- Markello, Thomas;
- Gahl, William;
- Stratakis, Constantine;
- Schernthaner-Reiter, Marie Helene;
- Ramnitz, Mary Scott;
- Faucz, Fabio R;
- Nella, Aikaterini A
Publication type:
journal article
MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 634, doi. 10.1002/ajmg.a.37468
By:
- Regier, Debra S.;
- Kwon, Hyuk Joon;
- Johnston, Jean;
- Golas, Gretchen;
- Yang, Sandra;
- Wiggs, Edythe;
- Latour, Yvonne;
- Thomas, Sarah;
- Portner, Cindy;
- Adams, David;
- Vezina, Gilbert;
- Baker, Eva H.;
- Tifft, Cynthia J.
Publication type:
Article
The Phenotype of the Musculocontractural Type of Ehlers-Danlos Syndrome due to CHST14 Mutations.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 103, doi. 10.1002/ajmg.a.37383
By:
- Janecke, Andreas R.;
- Li, Ben;
- Boehm, Manfred;
- Krabichler, Birgit;
- Rohrbach, Marianne;
- Müller, Thomas;
- Fuchs, Irene;
- Golas, Gretchen;
- Katagiri, Yasuhiro;
- Ziegler, Shira G.;
- Gahl, William A.;
- Wilnai, Yael;
- Zoppi, Nicoletta;
- Geller, Herbert M.;
- Giunta, Cecilia;
- Slavotinek, Anne;
- Steinmann, Beat
Publication type:
Article
MED23-associated intellectual disability in a non-consanguineous family.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1374, doi. 10.1002/ajmg.a.37047
By:
- Trehan, Aditi;
- Brady, Jacqueline M.;
- Maduro, Valerie;
- Bone, William P.;
- Huang, Yan;
- Golas, Gretchen A.;
- Kane, Megan S.;
- Lee, Paul R.;
- Thurm, Audrey;
- Gropman, Andrea L.;
- Paul, Scott M.;
- Vezina, Gilbert;
- Markello, Thomas C.;
- Gahl, William A.;
- Boerkoel, Cornelius F.;
- Tifft, Cynthia J.
Publication type:
Article
Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 4, p. 476, doi. 10.1038/ejhg.2011.222
By:
- Pierson, Tyler Mark;
- Simeonov, Dimitre R;
- Sincan, Murat;
- Adams, David A;
- Markello, Thomas;
- Golas, Gretchen;
- Fuentes-Fajardo, Karin;
- Hansen, Nancy F;
- Cherukuri, Praveen F;
- Cruz, Pedro;
- Blackstone, Craig;
- Tifft, Cynthia;
- Boerkoel, Cornelius F;
- Gahl, William A
Publication type:
Article
Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy.
Published in:
Nature Communications, 2014, v. 5, n. 2, p. 3251, doi. 10.1038/ncomms4251
By:
- Yuan, Hongjie;
- Hansen, Kasper B.;
- Zhang, Jing;
- Mark Pierson, Tyler;
- Markello, Thomas C.;
- Fajardo, Karin V. Fuentes;
- Holloman, Conisha M.;
- Golas, Gretchen;
- Adams, David R.;
- Boerkoel, Cornelius F.;
- Gahl, William A.;
- Traynelis, Stephen F.
Publication type:
Article
Clinical, Molecular, and Cellular Features of Non-Puerto Rican Hermansky-Pudlak Syndrome Patients of Hispanic Descent.
Published in:
Journal of Investigative Dermatology, 2011, v. 131, n. 12, p. 2394, doi. 10.1038/jid.2011.228
By:
- Carmona-Rivera, Carmelo;
- Golas, Gretchen;
- Hess, Richard A;
- Cardillo, Nicholas D;
- Martin, Elijah H;
- O'Brien, Kevin;
- Tsilou, Ekaterini;
- Gochuico, Bernadette R;
- White, James G;
- Huizing, Marjan;
- Gahl, William A
Publication type:
Article
Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 2, p. 397, doi. 10.1093/hmg/ddt429
By:
- Lim, Young H.;
- Ovejero, Diana;
- Sugarman, Jeffrey S.;
- DeKlotz, Cynthia M.C.;
- Maruri, Ann;
- Eichenfield, Lawrence F.;
- Kelley, Patrick K.;
- Jüppner, Harald;
- Gottschalk, Michael;
- Tifft, Cynthia J.;
- Gafni, Rachel I.;
- Boyce, Alison M.;
- Cowen, Edward W.;
- Bhattacharyya, Nisan;
- Guthrie, Lori C.;
- Gahl, William A.;
- Golas, Gretchen;
- Loring, Erin C.;
- Overton, John D.;
- Mane, Shrikant M.
Publication type:
Article
Interstitial Lung Disease and Pulmonary Fibrosis in Hermansky-Pudlak Syndrome Type 2, an Adaptor Protein-3 Complex Disease.
Published in:
Molecular Medicine, 2012, v. 18, n. 1, p. 56, doi. 10.2119/molmed.2011.00198
By:
- Gochuico, Bernadette R.;
- Huizing, Marjan;
- Golas, Gretchen A.;
- Scher, Charles D.;
- Tsokos, Maria;
- Denver, Stacey D.;
- Frei-Jones, Melissa J.;
- Gahl, William A.
Publication type:
Article
Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases.
Published in:
PLoS Genetics, 2011, v. 7, n. 10, p. 1, doi. 10.1371/journal.pgen.1002325
By:
- Pierson, Tyler Mark;
- Adams, David;
- Bonn, Florian;
- Martinelli, Paola;
- Cherukuri, Praveen F.;
- Teer, Jamie K.;
- Hansen, Nancy F.;
- Cruz, Pedro;
- Mullikin, James C.;
- Blakesley, Robert W.;
- Golas, Gretchen;
- Kwan, Justin;
- Sandler, Anthony;
- Fajardo, Karin Fuentes;
- Markello, Thomas;
- Tifft, Cynthia;
- Blackstone, Craig;
- Rugarli, Elena I.;
- Langer, Thomas;
- Gahl, William A.
Publication type:
Article
Cover Image, Volume 38, Issue 10.
Published in:
Human Mutation, 2017, v. 38, n. 10, p. i, doi. 10.1002/humu.23317
By:
- Oprescu, Stephanie N.;
- Chepa‐Lotrea, Xenia;
- Takase, Ryuichi;
- Golas, Gretchen;
- Markello, Thomas C.;
- Adams, David R.;
- Toro, Camilo;
- Gropman, Andrea L.;
- Hou, Ya‐Ming;
- Malicdan, May Christine V.;
- Gahl, William A.;
- Tifft, Cynthia J.;
- Antonellis, Anthony
Publication type:
Article
Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation.
Published in:
Human Mutation, 2017, v. 38, n. 10, p. 1412, doi. 10.1002/humu.23287
By:
- Oprescu, Stephanie N.;
- Chepa‐Lotrea, Xenia;
- Takase, Ryuichi;
- Golas, Gretchen;
- Markello, Thomas C.;
- Adams, David R.;
- Toro, Camilo;
- Gropman, Andrea L.;
- Hou, Ya‐Ming;
- Malicdan, May Christine V.;
- Gahl, William A.;
- Tifft, Cynthia J.;
- Antonellis, Anthony
Publication type:
Article
A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8.
Published in:
Pigment Cell & Melanoma Research, 2012, v. 25, n. 5, p. 584, doi. 10.1111/j.1755-148X.2012.01029.x
By:
- Cullinane, Andrew R.;
- Curry, James A.;
- Golas, Gretchen;
- Pan, James;
- Carmona-Rivera, Carmelo;
- Hess, Richard A.;
- White, James G.;
- Huizing, Marjan;
- Gahl, William A.
Publication type:
Article

Found: 14