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Author/Creator Marom, Daphna

1. A Possible Genotype-Phenotype Correlation in Ashkenazi-Jewish Individuals With Aicardi-Goutières Syndrome Associated With SAMHD1 Mutation. (March 2015)

Authors:
Straussberg, Rachel; Marom, Daphna; Sanado-Inbar, Esther; Lakovsky, Yaniv; Horev, Gadi; Shalev, Stavit A.; Lev, Dorit; Lerman-Sagie, Tally; Leshinsky-Silver, Esther
Journal:
Journal of child neurology
Issue:
Volume 30:Number 4(2015:Mar.)
Page Start:
490
Record Type:
Journal Article
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2. Biallelic loss of EMC10 leads to mild to severe intellectual disability. Issue 7 (9th June 2022)

Authors:
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, Bo...
Journal:
Annals of clinical and translational neurology
Issue:
Volume 9:Issue 7(2022)
Page Start:
1080
Record Type:
Journal Article
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3. Concomitant variants in NF1, LZTR1 and GNAZ genes probably contribute to the aggressiveness of plexiform neurofibroma and warrant treatment with MEK inhibitor. Issue 5 (20th December 2021)

Authors:
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.
Journal:
Experimental dermatology
Issue:
Volume 31:Issue 5(2022)
Page Start:
775
Record Type:
Journal Article
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4. Is one diagnosis the whole story? patients with double diagnoses. Issue 9 (8th June 2016)

Authors:
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.
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 9(2016)
Page Start:
2338
Record Type:
Journal Article
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6. SCN3A‐Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation. Issue 2 (9th July 2020)

Authors:
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; Hau...
Journal:
Annals of neurology
Issue:
Volume 88:Issue 2(2020)
Page Start:
348
Record Type:
Journal Article
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7. The phenotype of 15 cases with rare 8q24.13‐q24.3 deletions–A new syndrome or still an enigma?. Issue 5 (22nd February 2021)

Authors:
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
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 5(2021)
Page Start:
1461
Record Type:
Journal Article
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