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Genetic Disorders
Contributing journals to this collection:
JAMA & Archives Journals
Citations 221-230 of 1368 total displayed.
- Original Contributions
Development of a High-Throughput Microarray-Based Resequencing System for Neurological Disorders and Its Application to Molecular Genetics of Amyotrophic Lateral Sclerosis
- Yuji Takahashi; Naomi Seki; Hiroyuki Ishiura; Jun Mitsui; Takashi Matsukawa; Atsushi Kishino; Osamu Onodera; Masashi Aoki; Nobuyuki Shimozawa; Shigeo Murayama; Yasuto Itoyama; Yasuyuki Suzuki; Gen Sobue; Masatoyo Nishizawa; Jun Goto; Shoji Tsuji
Arch Neurol 2008; 65: 1326-1332.
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- Original Contributions
Mutations of the ANG Gene in French Patients With Sporadic Amyotrophic Lateral Sclerosis
- Agathe Paubel; Jeremy Violette; Maïté Amy; Julien Praline; Vincent Meininger; William Camu; Philippe Corcia; Christian R. Andres; Patrick Vourc’h; for the French Amyotrophic Lateral Sclerosis (ALS) Study Group
Arch Neurol 2008; 65: 1333-1336.
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- Original Contributions
The Spectrum of Parkinsonian Manifestations Associated With Glucocerebrosidase Mutations
- Ozlem Goker-Alpan; Grisel Lopez; Joseph Vithayathil; Joie Davis; Mark Hallett; Ellen Sidransky
Arch Neurol 2008; 65: 1353-1357.
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- Original Contributions
Association of GSK3B With Alzheimer Disease and Frontotemporal Dementia
- Barbara A. J. Schaffer; Lars Bertram; Bruce L. Miller; Kristina Mullin; Sandra Weintraub; Nancy Johnson; Eileen H. Bigio; Marsel Mesulam; Martina Wiedau-Pazos; George R. Jackson; Jeffrey L. Cummings; Rita M. Cantor; Allan I. Levey; Rudolph E. Tanzi; Daniel H. Geschwind
Arch Neurol 2008; 65: 1368-1374.
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- Clinical Sciences
Correlation of Nonsense and Frameshift Mutations With Severity of Retinal Abnormalities in Neurofibromatosis 2
- Matthias Feucht; Lan Kluwe; Victor-Felix Mautner; Gisbert Richard
Arch Ophthalmol 2008; 126: 1376-1380.
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- Off-Center Fold
Multiple Collections of Soft Bluish Nodules on the Body—Diagnosis
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Arch Dermatol 2008; 144: 1383-e-1388-e.
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- Off-Center Fold
Multiple Collections of Soft Bluish Nodules on the Body—Quiz Case
- Mohammad R. Namazi; Michael L. Hinckley; Joseph L. Jorizzo
Arch Dermatol 2008; 144: 1383-d-1388-d.
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- Ophthalmic Molecular Genetics
CYP1B1 and MYOC Mutations in 116 Chinese Patients With Primary Congenital Glaucoma
- Yuhong Chen; Deke Jiang; Long Yu; Bradley Katz; Kang Zhang; Bo Wan; Xinghuai Sun
Arch Ophthalmol 2008; 126: 1443-1447.
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- Small Case Series
Multimodal Fundus Imaging in Foveal Hypoplasia: Combined Scanning Laser Ophthalmoscope Imaging and Spectral-Domain Optical Coherence Tomography
- Peter Charbel Issa; Michael Foerl; Hans-Martin Helb; Hendrik P. N. Scholl; Frank G. Holz
Arch Ophthalmol 2008; 126: 1463-1465.
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[ VIDEO SUPPLEMENT ]
- Lab Reports
Eye Disease Gene
- Tracy Hampton
JAMA 2008; 300: 1508-a.
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