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2721.
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2722.
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2723.
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Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome. [electronic resource] by
- Sangiorgi, Eugenio
- Azzarà, Alessia
- Molinario, Clelia
- Pietrobono, Roberta
- Rigante, Donato
- Verrecchia, Elena
- Sicignano, Ludovico Luca
- Genuardi, Maurizio
- Gurrieri, Fiorella
- Manna, Raffaele
Producer: 20200612
In:
European journal of human genetics : EJHG vol. 27
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2724.
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2725.
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Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy. [electronic resource] by
- Piro-Mégy, Camille
- Sarzi, Emmanuelle
- Tarrés-Solé, Aleix
- Péquignot, Marie
- Hensen, Fenna
- Quilès, Mélanie
- Manes, Gaël
- Chakraborty, Arka
- Sénéchal, Audrey
- Bocquet, Béatrice
- Cazevieille, Chantal
- Roubertie, Agathe
- Müller, Agnès
- Charif, Majida
- Goudenège, David
- Lenaers, Guy
- Wilhelm, Helmut
- Kellner, Ulrich
- Weisschuh, Nicole
- Wissinger, Bernd
- Zanlonghi, Xavier
- Hamel, Christian
- Spelbrink, Johannes N
- Sola, Maria
- Delettre, Cécile
Producer: 20200724
In:
The Journal of clinical investigation vol. 130
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2726.
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Reverse Phenotyping after Whole-Exome Sequencing in Steroid-Resistant Nephrotic Syndrome. [electronic resource] by
- Landini, Samuela
- Mazzinghi, Benedetta
- Becherucci, Francesca
- Allinovi, Marco
- Provenzano, Aldesia
- Palazzo, Viviana
- Ravaglia, Fiammetta
- Artuso, Rosangela
- Bosi, Emanuele
- Stagi, Stefano
- Sansavini, Giulia
- Guzzi, Francesco
- Cirillo, Luigi
- Vaglio, Augusto
- Murer, Luisa
- Peruzzi, Licia
- Pasini, Andrea
- Materassi, Marco
- Roperto, Rosa Maria
- Anders, Hans-Joachim
- Rotondi, Mario
- Giglio, Sabrina Rita
- Romagnani, Paola
Producer: 20210531
In:
Clinical journal of the American Society of Nephrology : CJASN vol. 15
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2727.
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2728.
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2729.
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Pontocerebellar hypoplasia type 11: Does the genetic defect determine timing of cerebellar pathology? [electronic resource] by
- Laugwitz, Lucia
- Buchert, Rebecca
- Groeschel, Samuel
- Riess, Angelika
- Grimmel, Mona
- Beck-Wödl, Stefanie
- Sturm, Marc
- Gohla, Georg
- Döbler-Neumann, Marion
- Krägeloh-Mann, Ingeborg
- Haack, Tobias B
Producer: 20210104
In:
European journal of medical genetics vol. 63
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2730.
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2734.
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2735.
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A novel missense SNAP25b mutation in two affected siblings from an Israeli family showing seizures and cerebellar ataxia. [electronic resource] by
- Fukuda, Hiroyuki
- Imagawa, Eri
- Hamanaka, Kohei
- Fujita, Atsushi
- Mitsuhashi, Satomi
- Miyatake, Satoko
- Mizuguchi, Takeshi
- Takata, Atsushi
- Miyake, Noriko
- Kramer, Uri
- Matsumoto, Naomichi
- Fattal-Valevski, Aviva
Producer: 20180918
In:
Journal of human genetics vol. 63
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2736.
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2737.
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Clinical spectrum of hemiplegic migraine and chances of finding a pathogenic mutation. [electronic resource] by
- Pelzer, Nadine
- Haan, Joost
- Stam, Anine H
- Vijfhuizen, Lisanne S
- Koelewijn, Stephany C
- Smagge, Amber
- de Vries, Boukje
- Ferrari, Michel D
- van den Maagdenberg, Arn M J M
- Terwindt, Gisela M
Producer: 20190729
In:
Neurology vol. 90
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2738.
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MultiDimensional ClinOmics for Precision Therapy of Children and Adolescent Young Adults with Relapsed and Refractory Cancer: A Report from the Center for Cancer Research. [electronic resource] by
- Chang, Wendy
- Brohl, Andrew S
- Patidar, Rajesh
- Sindiri, Sivasish
- Shern, Jack F
- Wei, Jun S
- Song, Young K
- Yohe, Marielle E
- Gryder, Berkley
- Zhang, Shile
- Calzone, Kathleen A
- Shivaprasad, Nityashree
- Wen, Xinyu
- Badgett, Thomas C
- Miettinen, Markku
- Hartman, Kip R
- League-Pascual, James C
- Trahair, Toby N
- Widemann, Brigitte C
- Merchant, Melinda S
- Kaplan, Rosandra N
- Lin, Jimmy C
- Khan, Javed
Producer: 20180112
In:
Clinical cancer research : an official journal of the American Association for Cancer Research vol. 22
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2739.
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2740.
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Comprehensive Genetic Results for Primary Immunodeficiency Disorders in a Highly Consanguineous Population. [electronic resource] by
- Al-Herz, Waleed
- Chou, Janet
- Delmonte, Ottavia Maria
- Massaad, Michel J
- Bainter, Wayne
- Castagnoli, Riccardo
- Klein, Christoph
- Bryceson, Yenan T
- Geha, Raif S
- Notarangelo, Luigi D
Producer: 20191017
In:
Frontiers in immunology vol. 9
Availability: No items available.
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