Results
|
41.
|
|
|
42.
|
|
|
43.
|
|
|
44.
|
|
|
45.
|
|
|
46.
|
|
|
47.
|
|
|
48.
|
|
|
49.
|
|
|
50.
|
|
|
51.
|
Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy. [electronic resource] by
- Assoum, Mirna
- Philippe, Christophe
- Isidor, Bertrand
- Perrin, Laurence
- Makrythanasis, Periklis
- Sondheimer, Neal
- Paris, Caroline
- Douglas, Jessica
- Lesca, Gaetan
- Antonarakis, Stylianos
- Hamamy, Hanan
- Jouan, Thibaud
- Duffourd, Yannis
- Auvin, Stéphane
- Saunier, Aline
- Begtrup, Amber
- Nowak, Catherine
- Chatron, Nicolas
- Ville, Dorothée
- Mireskandari, Kamiar
- Milani, Paolo
- Jonveaux, Philippe
- Lemeur, Guylène
- Milh, Mathieu
- Amamoto, Masano
- Kato, Mitsuhiro
- Nakashima, Mitsuko
- Miyake, Noriko
- Matsumoto, Naomichi
- Masri, Amira
- Thauvin-Robinet, Christel
- Rivière, Jean-Baptiste
- Faivre, Laurence
- Thevenon, Julien
Producer: 20170523
In:
American journal of human genetics vol. 99
Availability: No items available.
|
|
52.
|
Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2. [electronic resource] by
- Jung, Johannes
- Bohn, Georg
- Allroth, Anna
- Boztug, Kaan
- Brandes, Gudrun
- Sandrock, Inga
- Schäffer, Alejandro A
- Rathinam, Chozhavendan
- Köllner, Inga
- Beger, Carmela
- Schilke, Reinhard
- Welte, Karl
- Grimbacher, Bodo
- Klein, Christoph
Producer: 20070817
In:
Blood vol. 108
Availability: No items available.
|
|
53.
|
|
|
54.
|
|
|
55.
|
Autoimmune gait disturbance accompanying adaptor protein-3B2-IgG. [electronic resource] by
- Honorat, Josephe A
- Lopez-Chiriboga, A Sebastian
- Kryzer, Thomas J
- Komorowski, Lars
- Scharf, Madeleine
- Hinson, Shannon R
- Lennon, Vanda A
- Pittock, Sean J
- Klein, Christopher J
- McKeon, Andrew
Producer: 20200130
In:
Neurology vol. 93
Availability: No items available.
|
|
56.
|
|
|
57.
|
AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant. [electronic resource] by
- Szczałuba, Krzysztof
- Mierzewska, Hanna
- Śmigiel, Robert
- Kosińska, Joanna
- Koppolu, Agnieszka
- Biernacka, Anna
- Stawiński, Piotr
- Pollak, Agnieszka
- Rydzanicz, Małgorzata
- Płoski, Rafał
Producer: 20201228
In:
Journal of applied genetics vol. 61
Availability: No items available.
|
|
58.
|
|
|
59.
|
|
|
60.
|
|