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Author/Creator Mandel, Hanna

1. Absence of α- and β-dystroglycan is associated with Walker-Warburg syndrome. (26th May 2015)

Authors:
Riemersma, Moniek; Mandel, Hanna; van Beusekom, Ellen; Gazzoli, Isabella; Roscioli, Tony; Eran, Ayelet; Gershoni-Baruch, Ruth; Gershoni, Moran; Pietrokovski, Shmuel; Vissers, Lisenka E.; Lefeber, Dirk J.; Willemsen, Michèl A.; Wevers, Ron A.; van Bokhoven, Hans
Journal:
Neurology
Issue:
Volume 84:Number 21(2015)
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Record Type:
Journal Article
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2. ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia. (April 2018)

Authors:
Bouwkamp, Christian G.; Afawi, Zaid; Fattal-Valevski, Aviva; Krabbendam, Inge E.; Rivetti, Stefano; Masalha, Rafik; Quadri, Marialuisa; Breedveld, Guido J.; Mandel, Hanna; Tailakh, Muhammad Abu; Beverloo, H. Berna; Stevanin, Giovanni; Brice, Alexis; van IJcken, Wilfred F.J.; Vernooij, Meike W.; D...
Journal:
Neurology
Issue:
Volume 4:Number 2(2018)
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Record Type:
Journal Article
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3. 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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5. Clinical presentation and outcome in a series of 88 patients with the cblC defect. Issue 5 (6th March 2014)

Authors:
Fischer, Sabine; Huemer, Martina; Baumgartner, Matthias; Deodato, Federica; Ballhausen, Diana; Boneh, Avihu; Burlina, Alberto B.; Cerone, Roberto; Garcia, Paula; Gökçay, Gülden; Grünewald, Stephanie; Häberle, Johannes; Jaeken, Jaak; Ketteridge, David; Lindner, Martin; Mandel, Hanna; Martinelli, D...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 37:Issue 5(2014)
Page Start:
831
Record Type:
Journal Article
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6. Clinical, biochemical, and genetic features associated with VARS2‐related mitochondrial disease. Issue 4 (7th February 2018)

Authors:
Bruni, Francesco; Di Meo, Ivano; Bellacchio, Emanuele; Webb, Bryn D.; McFarland, Robert; Chrzanowska‐Lightowlers, Zofia M.A.; He, Langping; Skorupa, Ewa; Moroni, Isabella; Ardissone, Anna; Walczak, Anna; Tyynismaa, Henna; Isohanni, Pirjo; Mandel, Hanna; Prokisch, Holger; Haack, Tobias; Bonnen, Pe...
Journal:
Human mutation
Issue:
Volume 39:Issue 4(2018)
Page Start:
563
Record Type:
Journal Article
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7. Clinical, biochemical, and genetic features associated with VARS2‐related mitochondrial disease. Issue 4 (7th February 2018)

Authors:
Bruni, Francesco; Di Meo, Ivano; Bellacchio, Emanuele; Webb, Bryn D.; McFarland, Robert; Chrzanowska‐Lightowlers, Zofia M.A.; He, Langping; Skorupa, Ewa; Moroni, Isabella; Ardissone, Anna; Walczak, Anna; Tyynismaa, Henna; Isohanni, Pirjo; Mandel, Hanna; Prokisch, Holger; Haack, Tobias; Bonnen, Pe...
Journal:
Human mutation
Issue:
Volume 39:Issue 4(2018)
Page Start:
563
Record Type:
Journal Article
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8. COG6‐CDG: Expanding the phenotype with emphasis on glycosylation defects involved in the causation of male disorders of sex development. Issue 4 (4th August 2020)

Authors:
Mandel, Hanna; Cohen Kfir, Nehama; Fedida, Ayalla; Shuster Biton, Efrat; Odeh, Marwan; Kalfon, Limor; Ben‐Harouch, Shani; Fleischer Sheffer, Vered; Hoffman, Yoav; Goldberg, Yael; Dinwiddie, April; Dumin, Elena; Eran, Ayelet; Apel‐Sarid, Liat; Tiosano, Dov; Falik‐Zaccai, Tzipora C.
Journal:
Clinical genetics
Issue:
Volume 98:Issue 4(2020)
Page Start:
402
Record Type:
Journal Article
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9. Congenital Hypotonia: Cracking a SAGA of consanguineous kindred harboring four genetic variants. Issue 1 (31st December 2021)

Authors:
Kalfon, Limor; Baydany, Meirav; Samra, Nadra; Heno, Nawaf; Segal, Zvi; Eran, Ayelet; Yulevich, Alon; Fellig, Yakov; Mandel, Hanna; Falik‐Zaccai, Tzipora C.
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 10:Issue 1(2022)
Page Start:
n/a
Record Type:
Journal Article
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