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Author/Creator Wilnai, Yael

2. Addition of galactose‐1‐phosphate measurement enhances newborn screening for classical galactosemia. Issue 2 (20th December 2022)

Authors:
Daas, Suha; Abu Salah, Nasser; Anikster, Yair; Barel, Ortal; Damseh, Nadirah S.; Dumin, Elena; Fattal‐Valevski, Aviva; Falik‐Zaccai, Tzipora C.; Habib, Clair; Josefsberg, Sagi; Korman, Stanley H.; Kneller, Katya; Landau, Yuval; Lerman‐Sagie, Tally; Mandel, Hanna; Manor, Yehoshua; Moady Abdalla, T...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 46:Issue 2(2023)
Page Start:
232
Record Type:
Journal Article
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3. Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome. Issue 6 (30th March 2021)

Authors:
Sheppard, Sarah E.; Campbell, Ian M.; Harr, Margaret H.; Gold, Nina; Li, Dong; Bjornsson, Hans T.; Cohen, Julie S.; Fahrner, Jill A.; Fatemi, Ali; Harris, Jacqueline R.; Nowak, Catherine; Stevens, Cathy A.; Grand, Katheryn; Au, Margaret; Graham, John M.; Sanchez‐Lara, Pedro A.; Campo, Miguel Del;...
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 6(2021)
Page Start:
1649
Record Type:
Journal Article
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4. Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice. (4th December 2020)

Authors:
Martin, Ella M M A; Enriquez, Annabelle; Sparrow, Duncan B; Humphreys, David T; McInerney-Leo, Aideen M; Leo, Paul J; Duncan, Emma L; Iyer, Kavitha R; Greasby, Joelene A; Ip, Eddie; Giannoulatou, Eleni; Sheng, Delicia; Wohler, Elizabeth; Dimartino, Clémantine; Amiel, Jeanne; Capri, Yline; Lehalle...
Journal:
Human molecular genetics
Issue:
Volume 29:Number 22(2020)
Page Start:
3662
Record Type:
Journal Article
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5. The phenotype of the musculocontractural type of Ehlers‐Danlos syndrome due to CHST14 mutations. Issue 1 (16th September 2015)

Authors:
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
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 1(2016)
Page Start:
103
Record Type:
Journal Article
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