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The d3GHR carrier epigenome in Druze clan longevity
Author / Creator:Falah, Ghadeer ; Kurolap, Alina ; Paperna, Tamar ; Ekhilevitch, Nina ; Moustafa, Nivin ; Damouny-Naoum, Nadine ; Amir, Yam ; Sharvit, Lital ; Moghrabi, Rihan ; Hassoun, Gamal ; Fares, Fuad ; Baris Feldman, Hagit ; Atzmon, Gil
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2024-09, Vol.14 (1), p.21419-12, Article 21419
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A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4
Author / Creator:Hershkovitz, Tova ; Kurolap, Alina ; Gonzaga-Jauregui, Claudia ; Paperna, Tamar ; Mory, Adi ; Wolf, Sarah E. ; Overton, John D. ; Shuldiner, Alan R. ; Saada, Ann ; Mandel, Hanna ; Baris Feldman, Hagit
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2019-06, Vol.64 (6), p.589-595
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Loss of CD55 in Eculizumab-Responsive Protein-Losing Enteropathy
Author / Creator:Kurolap, Alina ; Eshach-Adiv, Orly ; Hershkovitz, Tova ; Paperna, Tamar ; Mory, Adi ; Oz-Levi, Danit ; Zohar, Yaniv ; Mandel, Hanna ; Chezar, Judith ; Azoulay, David ; Peleg, Sarit ; Half, Elizabeth E ; Yahalom, Vered ; Finkel, Lilach ; Weissbrod, Omer ; Geiger, Dan ; Tabib, Adi ; Shaoul, Ron ; Magen, Daniella ; Bonstein, Lilach ; Mevorach, Dror ; Baris, Hagit N
Publisher:United States: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2017-07, Vol.377 (1), p.87-89
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Eculizumab-Responsive Adult Onset Protein Losing Enteropathy, Caused by Germline CD55-Deficiency and Complicated by Aggressive Angiosarcoma
Author / Creator:Hagin, David ; Lahav, Dror ; Freund, Tal ; Shamai, Sivan ; Brazowski, Eli ; Fishman, Sigal ; Kurolap, Alina ; Baris Feldman, Hagit ; Shohat, Mordechai ; Salomon, Ophira
Publisher:New York: Springer US
Journal title:Journal of clinical immunology, 2021-02, Vol.41 (2), p.477-481
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The patient experience of CHAPLE disease: results from interviews conducted as part of a clinical trial for an ultra-rare condition
Author / Creator:Litcher-Kelly, Leighann ; Ozen, Ahmet ; Ollis, Sarah ; Feldman, Hagit Baris ; Yaworsky, Andrew ; Medrano, Paolo ; Chongsrisawat, Voranush ; Perlee, Lorah ; Walker, Marisa ; Pradeep, Sharanya ; Turner-Bowker, Diane M ; Kurolap, Alina ; Adiv, Orly Eshach ; Lenardo, Michael J ; Harari, Olivier A ; Jalbert, Jessica J
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2025-02, Vol.20 (1), p.68-9
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Changes in glycinergic neurotransmission alter mammalian retinal information processing
Author / Creator:Joachimsthaler, Anneka ; Hauf, Katharina ; Armbruster, Anja ; Zayit-Soudry, Shiri ; Naaman, Efrat ; Perlman, Ido ; Leibu, Rina ; Kurolap, Alina ; Baris Feldman, Hagit ; Kremers, Jan ; Eulenburg, Volker
Publisher:Switzerland: Frontiers Media S.A
Journal title:Frontiers in molecular neuroscience, 2025, Vol.18, p.1564870
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Community data-driven approach to identify pathogenic founder variants for pan-ethnic carrier screening panels
Author / Creator:Einhorn, Yaron ; Einhorn, Moshe ; Kurolap, Alina ; Steinberg, Dror ; Mory, Adi ; Bazak, Lily ; Paperna, Tamar ; Grinshpun-Cohen, Julia ; Basel-Salmon, Lina ; Weiss, Karin ; Singer, Amihood ; Yaron, Yuval ; Baris Feldman, Hagit
Publisher:England: BioMed Central
Journal title:Human genomics, 2023-03, Vol.17 (1), p.30-30, Article 30
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Complete loss of the atrial natriuretic peptide‐converting enzyme Corin and CHAF‐LA syndrome: Implications to natriuretic peptide physiology and left atrium health
Author / Creator:Kurolap, Alina ; Chai Gadot, Chofit ; Zahler, David ; Ablin, Jacob N ; Baris Feldman, Hagit
Publisher:United States: John Wiley & Sons, Inc
Journal title:Clinical and translational medicine, 2024-01, Vol.14 (1), p.e1540-n/a
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Evaluation of the digital genetic assistant in technology assisted genetic counseling for genetic carrier screening
Author / Creator:Yaron, Yuval ; Ofen Glassner, Vered ; Berkenstadt, Michal ; Goldstein, Nurit ; Reznik Wolf, Haike ; Ries Levavi, Liat ; Abo Gutstein, Liat ; Furman, Yael ; Anouchi, Mori ; Delmar, Galit ; Behar, Doron M. ; Pras, Elon ; Reches, Adi ; Kurolap, Alina ; Baris Feldman, Hagit
Publisher:London: Nature Publishing Group UK
Journal title:NPJ digital medicine, 2025-03, Vol.8 (1), p.183-8, Article 183
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BRCA1/2 mutations and FMR1 alleles are randomly distributed: a case control study
Author / Creator:Dagan, Efrat ; Cohen, Yoram ; Mory, Adi ; Adir, Vardit ; Borochowitz, Zvi ; Raanani, Hila ; Kurolap, Alina ; Melikhan-Revzin, Svetlana ; Meirow, Dror ; Gershoni-Baruch, Ruth
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2014-02, Vol.22 (2), p.277-279
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Special issue: the genetics of early onset inflammatory bowel disease
Author / Creator:Kurolap, Alina ; Baris Feldman, Hagit
Publisher:Springer
Journal title:Human genetics, 2023-05, Vol.142 (5), p.595
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Special issue: the genetics of early onset inflammatory bowel disease (IBD) and diarrheal disorders
Author / Creator:Kurolap, Alina ; Baris Feldman, Hagit
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2023-05, Vol.142 (5), p.595-597
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CD55-deficiency in Jews of Bukharan descent is caused by the Cromer blood type Dr
Author / Creator:Kurolap, Alina ; Hagin, David ; Freund, Tal ; Fishman, Sigal ; Zunz Henig, Noa ; Brazowski, Eli ; Yeshaya, Josepha
Publisher:Springer
Journal title:Human genetics, 2023-05, Vol.142 (5), p.683
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Corin and Left Atrial Cardiomyopathy, Hypertension, Arrhythmia, and Fibrosis
Author / Creator:Baris Feldman, Hagit ; Chai Gadot, Chofit ; Zahler, David ; Mory, Adi ; Aviram, Galit ; Elhanan, Emil ; Shefer, Gabi ; Goldiner, Ilana ; Amir, Yam ; Kurolap, Alina ; Ablin, Jacob N.
Publisher:United States: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2023-11, Vol.389 (18), p.1685-1692
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Corin and Left Atrial Cardiomyopathy, Hypertension, Arrhythmia, and Fibrosis. Reply
Author / Creator:Kurolap, Alina ; Chai Gadot, Chofit ; Baris Feldman, Hagit
Publisher:United States
Journal title:The New England journal of medicine, 2024-04, Vol.390 (16), p.1539-1540
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CD55-deficiency in Jews of Bukharan descent is caused by the Cromer blood type Dr(a−) variant
Author / Creator:Kurolap, Alina ; Hagin, David ; Freund, Tal ; Fishman, Sigal ; Zunz Henig, Noa ; Brazowski, Eli ; Yeshaya, Josepha ; Naiman, Tova ; Pras, Elon ; Ablin, Jacob N. ; Baris Feldman, Hagit
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2023-05, Vol.142 (5), p.683-690
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Expanded targeted preconception screening panel in Israel: findings and insights
Author / Creator:Reches, Adi ; Ofen Glassner, Vered ; Goldstein, Nurit ; Yeshaya, Josepha ; Delmar, Galit ; Portugali, Ellie ; Hallas, Tova ; Weinstein, Amit ; Kurolap, Alina ; Berkenstadt, Michal ; Mantsour, Tal ; Abu-Gutstein, Liat ; Ries-Levavi, Liat ; Reznik-Wolf, Haike ; Behar, Doron Moshe ; Yaron, Yuval ; Pras, Elon ; Baris Feldman, Hagit
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2024-08, Vol.61 (8), p.783-787
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Corin and Left Atrial Cardiomyopathy, Hypertension, Arrhythmia, and Fibrosis
Author / Creator:Dominy, John ; Koch, Christopher ; Lamarche, Lindsey ; Denning, Daniel ; Gurtan, Allan ; Khan, Maleeha Z. ; Rasheed, Asif ; Mian, Muhammad R. ; Jahanzaib, Muhammad ; Khalid, Shareef ; Saleheen, Danish ; Gladysheva, Inna P. ; Wang, Dong ; Reed, Guy L. ; Abassi, Zaid ; Azzam, Zaher S. ; Heyman, Samuel N. ; Kurolap, Alina ; Chai Gadot, Chofit ; Baris Feldman, Hagit
Publisher:United States: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2024-04, Vol.390 (16), p.1537-1540
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Gaucher disease
Author / Creator:Hershkop, Eliyakim ; Kurolap, Alina ; Feldman, Hagit Baris
Publisher:Hauppauge: Nova Science Publishers, Inc
Journal title:International journal of child health and human development, 2020-04, Vol.13 (2), p.161-177
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Unique Ataxia-Oculomotor Apraxia 2 (AOA2) in Israel with Novel Variants, Atypical Late Presentation, and Possible Identification of a Poison Exon
Author / Creator:Ponger, Penina ; Kurolap, Alina ; Lerer, Israela ; Dagan, Judith ; Chai Gadot, Chofit ; Mory, Adi ; Wilnai, Yael ; Oniashvili, Nino ; Giladi, Nir ; Gurevich, Tanya ; Meiner, Vardiella ; Lossos, Alexander ; Baris Feldman, Hagit
Publisher:New York: Springer US
Journal title:Journal of molecular neuroscience, 2022-08, Vol.72 (8), p.1715-1723
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Showing 1 to 20 of 36 results

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The d3GHR carrier epigenome in Druze clan longevity

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A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4

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Loss of CD55 in Eculizumab-Responsive Protein-Losing Enteropathy

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Eculizumab-Responsive Adult Onset Protein Losing Enteropathy, Caused by Germline CD55-Deficiency and Complicated by Aggressive Angiosarcoma

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The patient experience of CHAPLE disease: results from interviews conducted as part of a clinical trial for an ultra-rare condition

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Changes in glycinergic neurotransmission alter mammalian retinal information processing

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Community data-driven approach to identify pathogenic founder variants for pan-ethnic carrier screening panels

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Complete loss of the atrial natriuretic peptide‐converting enzyme Corin and CHAF‐LA syndrome: Implications to natriuretic peptide physiology and left atrium health

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Evaluation of the digital genetic assistant in technology assisted genetic counseling for genetic carrier screening

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BRCA1/2 mutations and FMR1 alleles are randomly distributed: a case control study

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Special issue: the genetics of early onset inflammatory bowel disease

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Special issue: the genetics of early onset inflammatory bowel disease (IBD) and diarrheal disorders

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CD55-deficiency in Jews of Bukharan descent is caused by the Cromer blood type Dr

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Corin and Left Atrial Cardiomyopathy, Hypertension, Arrhythmia, and Fibrosis

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Corin and Left Atrial Cardiomyopathy, Hypertension, Arrhythmia, and Fibrosis. Reply

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CD55-deficiency in Jews of Bukharan descent is caused by the Cromer blood type Dr(a−) variant

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Expanded targeted preconception screening panel in Israel: findings and insights

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Corin and Left Atrial Cardiomyopathy, Hypertension, Arrhythmia, and Fibrosis

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Gaucher disease

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Unique Ataxia-Oculomotor Apraxia 2 (AOA2) in Israel with Novel Variants, Atypical Late Presentation, and Possible Identification of a Poison Exon

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