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A Possible Genotype-Phenotype Correlation in Ashkenazi-Jewish Individuals With Aicardi-Goutières Syndrome Associated With SAMHD1 Mutation.
Published in:
2015
By:
- Straussberg, Rachel;
- Marom, Daphna;
- Sanado-Inbar, Esther;
- Lakovsky, Yaniv;
- Horev, Gadi;
- Shalev, Stavit A.;
- Lev, Dorit;
- Lerman-Sagie, Tally;
- Leshinsky-Silver, Esther
Publication type:
Case Study
The phenotype of 15 cases with rare 8q24.13‐q24.3 deletions–A new syndrome or still an enigma?
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1461, doi. 10.1002/ajmg.a.62131
By:
- Maya, Idit;
- Kahana, Sarit;
- Agmon‐Fishman, Ifaat;
- Klein, Cochava;
- Matar, Reut;
- Berger, Racheli;
- Josefsberg, Sagi Ben Yehoshua;
- Shohat, Mordechai;
- Marom, Daphna;
- Basel‐Salmon, Lina;
- Sagi‐Dain, Lena
Publication type:
Article
Is one diagnosis the whole story? patients with double diagnoses.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2338, doi. 10.1002/ajmg.a.37799
By:
- Kurolap, Alina;
- Orenstein, Naama;
- Kedar, Inbal;
- Weisz Hubshman, Monika;
- Tiosano, Dov;
- Mory, Adi;
- Levi, Zohar;
- Marom, Daphna;
- Cohen, Lior;
- Ekhilevich, Nina;
- Douglas, Jessica;
- Nowak, Catherine Bearce;
- Tan, Wen‐Hann;
- Baris, Hagit N.
Publication type:
Article
Genetics of tuberous sclerosis complex: an update.
Published in:
Child's Nervous System, 2020, v. 36, n. 10, p. 2489, doi. 10.1007/s00381-020-04726-z
By:
- Marom, Daphna
Publication type:
Article
Telemedicine Versus Traditional In-Person Consultations: Comparison of Patient Satisfaction Rates.
Published in:
Telemedicine & e-Health, 2024, v. 30, n. 4, p. 1013, doi. 10.1089/tmj.2023.0273
By:
- Hamiel, Uri;
- Eshel Fuhrer, Audelia;
- Landau, Nitsan;
- Reches, Adi;
- Ponger, Penina;
- Elhanan, Emil;
- Tali, Barkan;
- Barel, Dalit;
- Simchoni, Sharon;
- Ofen Glassner, Vered;
- Botvinik, Adi;
- Levin, Shir;
- Baris Feldman, Hagit;
- Marom, Daphna
Publication type:
Article
Infective Endocarditis in Previously Healthy Children With Structurally Normal Hearts.
Published in:
Pediatric Cardiology, 2013, v. 34, n. 6, p. 1415, doi. 10.1007/s00246-013-0665-9
By:
- Marom, Daphna;
- Ashkenazi, Shai;
- Samra, Zmira;
- Birk, Einat
Publication type:
Article
Concomitant variants in NF1, LZTR1 and GNAZ genes probably contribute to the aggressiveness of plexiform neurofibroma and warrant treatment with MEK inhibitor.
Published in:
2022
By:
- Cohen‐Barak, Eran;
- Toledano‐Alhadef, Hagit;
- Danial‐Farran, Nada;
- Livneh, Ido;
- Mwassi, Banan;
- Hriesh, Maysa;
- Zagairy, Fadia;
- Gafni‐Amsalem, Chen;
- Bashir, Husam;
- Khayat, Morad;
- Warrour, Nassim;
- Sher, Osnat;
- Marom, Daphna;
- Postovsky, Sergey;
- Dujovny, Tal;
- Ziv, Michael;
- Shalev, Stavit A.
Publication type:
Case Study
Biallelic loss of EMC10 leads to mild to severe intellectual disability.
Published in:
Annals of Clinical & Translational Neurology, 2022, v. 9, n. 7, p. 1080, doi. 10.1002/acn3.51602
By:
- Kaiyrzhanov, Rauan;
- Rocca, Clarissa;
- Suri, Mohnish;
- Gulieva, Sughra;
- Zaki, Maha S.;
- Henig, Noa Z.;
- Siquier, Karine;
- Guliyeva, Ulviyya;
- Mounir, Samir M.;
- Marom, Daphna;
- Allahverdiyeva, Aynur;
- Megahed, Hisham;
- van Bokhoven, Hans;
- Cantagrel, Vincent;
- Rad, Aboulfazl;
- Pourkeramti, Alemeh;
- Dehghani, Boshra;
- Shao, Diane D.;
- Markus‐Bustani, Keren;
- Sofrin‐Drucker, Efrat
Publication type:
Article
Nonbullous Erythema Multiforme in Hospitalized Children: A 10-Year Survey.
Published in:
Pediatric Dermatology, 2015, v. 32, n. 5, p. 701, doi. 10.1111/pde.12659
By:
- Keller, Noy;
- Gilad, Oded;
- Marom, Daphna;
- Marcus, Nufar;
- Garty, Ben Zion
Publication type:
Article
SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation.
Published in:
2020
By:
- Zaman, Tariq;
- Helbig, Katherine L.;
- Clatot, Jérôme;
- Thompson, Christopher H.;
- Kang, Seok Kyu;
- Stouffs, Katrien;
- Jansen, Anna E.;
- Verstraete, Lieve;
- Jacquinet, Adeline;
- Parrini, Elena;
- Guerrini, Renzo;
- Fujiwara, Yuh;
- Miyatake, Satoko;
- Ben‐Zeev, Bruria;
- Bassan, Haim;
- Reish, Orit;
- Marom, Daphna;
- Hauser, Natalie;
- Vu, Thuy‐Anh;
- Ackermann, Sally
Publication type:
journal article
Genetic diagnosis and detection rates using C9orf72 repeat expansion and a multi-gene panel in amyotrophic lateral sclerosis.
Published in:
Journal of Neurology, 2024, v. 271, n. 7, p. 4258, doi. 10.1007/s00415-024-12368-3
By:
- Barel, Dalit;
- Marom, Daphna;
- Ponger, Penina;
- Kurolap, Alina;
- Bar-Shira, Anat;
- Kaplan-Ber, Idit;
- Mory, Adi;
- Abramovich, Beatrice;
- Yaron, Yuval;
- Drory, Vivian;
- Baris Feldman, Hagit
Publication type:
Article
National Rapid Genome Sequencing in Neonatal Intensive Care.
Published in:
JAMA Network Open, 2024, v. 7, n. 2, p. e240146, doi. 10.1001/jamanetworkopen.2024.0146
By:
- Marom, Daphna;
- Mory, Adi;
- Reytan-Miron, Sivan;
- Amir, Yam;
- Kurolap, Alina;
- Cohen, Julia Grinshpun;
- Morhi, Yocheved;
- Smolkin, Tatiana;
- Cohen, Lior;
- Zangen, Shmuel;
- Shalata, Adel;
- Riskin, Arieh;
- Peleg, Amir;
- Lavie-Nevo, Karen;
- Mandel, Dror;
- Chervinsky, Elana;
- Fisch, Clari Felszer;
- Fleisher Sheffer, Vered;
- Falik-Zaccai, Tzipora C.;
- Rips, Jonathan
Publication type:
Article
Cardiac screening in pediatric patients with neurofibromatosis type 1: similarities with Noonan syndrome?
Published in:
International Journal of Cardiovascular Imaging, 2024, v. 40, n. 7, p. 1475, doi. 10.1007/s10554-024-03125-8
By:
- Kapusta, Livia;
- Beer, Gil;
- Rothschild, Ehud;
- Baruch, Guy;
- Barkay, Gili;
- Marom, Daphna;
- Grinshpun-Cohen, Yulia;
- Raskind, Craig;
- Constantini, Shlomi;
- Toledano-Alhadef, Hagit
Publication type:
Article
X-linked mental retardation with alacrima and achalasia-Triple A syndrome or a new syndrome?
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1959, doi. 10.1002/ajmg.a.34121
By:
- Marom, Daphna;
- Albin, Adi;
- Schwartz, Charles;
- Har-Zahav, Adi;
- Straussberg, Rachel;
- Bartel, Frank;
- Birk, Efrat;
- Inbar, Dov;
- Basel-Vanagaite, Lina
Publication type:
Article

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