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Salivary C-reactive protein—a possible predictor of serum levels in pediatric acute respiratory illness.
Published in:
European Journal of Pediatrics, 2021, v. 180, n. 8, p. 2465, doi. 10.1007/s00431-021-04047-6
By:
- Gofin, Yoel;
- Fanous, Eliana;
- Pasternak, Yehonatan;
- Prokocimer, Zafnat;
- Zagoory-Sharon, Orna;
- Feldman, Ruth;
- Codick, Gabriel;
- Waisbourd-Zinman, Orith;
- Fried, Sophia;
- Livni, Gilat
Publication type:
Article
A familial deletion of 10p12.1 associated with thrombocytopenia.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 77, doi. 10.1002/ajmg.a.63403
By:
- Manohar, Sujal;
- Gofin, Yoel;
- Streff, Haley;
- Vossaert, Liesbeth;
- Camacho, Pamela;
- Murali, Chaya N.
Publication type:
Article
Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3516, doi. 10.1002/ajmg.a.62940
By:
- Keehan, Laura;
- Haviland, Isabel;
- Gofin, Yoel;
- Swanson, Lindsay C.;
- El Achkar, Christelle Moufawad;
- Schreiber, John;
- VanNoy, Grace E.;
- O'Heir, Emily;
- O'Donnell‐Luria, Anne;
- Lewis, Richard Alan;
- Magoulas, Pilar;
- Tran, Alyssa;
- Azamian, Mahshid S.;
- Chao, Hsiao‐Tuan;
- Pham, Lisa;
- Samaco, Rodney C.;
- Elsea, Sarah;
- Thorpe, Erin;
- Kesari, Akanchha;
- Perry, Denise
Publication type:
Article
Evidence for an association between Coffin‐Siris syndrome and congenital diaphragmatic hernia.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2718, doi. 10.1002/ajmg.a.62889
By:
- Gofin, Yoel;
- Zhao, Xiaonan;
- Gerard, Amanda;
- Scaglia, Fernando;
- Wangler, Michael F.;
- Schrier Vergano, Samantha A.;
- Scott, Daryl A.
Publication type:
Article
Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 836, doi. 10.1002/ajmg.a.62066
By:
- Gofin, Yoel;
- Mackay, Laura Palmer;
- Machol, Keren;
- Keswani, Sundeep;
- Potocki, Lorraine;
- Di Gregorio, Eleonora;
- Naretto, Valeria Giorgia;
- Brusco, Alfredo;
- Hernandez‐Garcia, Andres;
- Scott, Daryl A.
Publication type:
Article
DNA concentrations in amniotic fluid according to gestational age and fetal sex: data from 2573 samples.
Published in:
Archives of Gynecology & Obstetrics, 2024, v. 310, n. 4, p. 1981, doi. 10.1007/s00404-024-07698-6
By:
- Gofin, Yoel;
- Svirsky, Ran;
- Lavi Ben Atav, Dana;
- Liberman, Meytal;
- Tenne, Tamar;
- Perlman, Sharon;
- Sukenik-Halevy, Rivka
Publication type:
Article
DYRK1B haploinsufficiency in a family with metabolic syndrome and abnormal cognition.
Published in:
Clinical Genetics, 2022, v. 101, n. 2, p. 265, doi. 10.1111/cge.14084
By:
- Orenstein, Naama;
- Gofin, Yoel;
- Shomron, Noam;
- Ruhrman‐Shahar, Noa;
- Magal, Nurit;
- Hagari, Ofir;
- Azulay, Noy;
- Bazak, Lily;
- Goldberg, Yael;
- Basel‐Salmon, Lina
Publication type:
Article
Underlying genetic etiologies of congenital diaphragmatic hernia.
Published in:
Prenatal Diagnosis, 2022, v. 42, n. 3, p. 373, doi. 10.1002/pd.6099
By:
- Scott, Daryl A.;
- Gofin, Yoel;
- Berry, Aliska M.;
- Adams, April D.
Publication type:
Article
Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency.
Published in:
Human Mutation, 2022, v. 43, n. 4, p. 461, doi. 10.1002/humu.24332
By:
- Gofin, Yoel;
- Wang, Tianyun;
- Gillentine, Madelyn A.;
- Scott, Tiana M.;
- Berry, Aliska M.;
- Azamian, Mahshid S.;
- Genetti, Casie;
- Agrawal, Pankaj B.;
- Picker, Jonathan;
- Wojcik, Monica H.;
- Delgado, Mauricio R.;
- Lynch, Sally A.;
- Scherer, Stephen W.;
- Howe, Jennifer L.;
- Bacino, Carlos A.;
- DiTroia, Stephanie;
- VanNoy, Grace E.;
- O'Donnell‐Luria, Anne;
- Lalani, Seema R.;
- Graf, William D.
Publication type:
Article
A Model for Assessing the Gap between Physician Residency Demand and Present Status.
Published in:
Israel Medical Association Journal, 2012, v. 14, n. 5, p. 275
By:
- Gofin, Yoel;
- Afek, Arnon;
- Derazne, Estela;
- Toker, Asaf;
- Shamiss, Ari
Publication type:
Article

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