Results 201 to 210 of about 4,628 (262)

Deletion Testing of the <i>DEGS1</i> Gene Should Be Part of the Diagnostic Pipeline for Hypomyelinating Leukodystrophy (HLD18). [PDF]

Hum Mutat
Zanobio M, Nardecchia F, Cappuccio G, Onore ME, Di Letto P, Rahman SI, Terrone G, Ugga L, De Giorgi A, Cas MD, Trinchera M, Leuzzi V, Piluso G, Nigro V, Brunetti-Pierri N, TUDP consortium, Torella A.   +16 more
europepmc   +1 more source

On the mechanism of pterin-4a-carbinolamine dehydratase : synthesis of new substrate analogues and interaction with the enzyme

, 1997
Niels Kubasch, Manuela Hölzer, Sandra Köster, Hans‐Christoph Curtius, Sandro Ghisla, Wolfgang Pfleiderer   +5 more
openalex   +1 more source

CACNA1G Causes Dominantly Inherited Myoclonus-Ataxia with Intellectual Disability: A Case Report. [PDF]

Cerebellum
De Riggi M, De Giorgi A, Pollini L, Angelini L, Paparella G, Cannavacciuolo A, Birreci D, Costa D, Tessa A, Natale G, Fiorelli M, Galatolo D, Santorelli FM, Galosi S, Bologna M.   +14 more
europepmc   +1 more source

6-Pyruvoyl Tetrahydropterin Synthase in Human Tissues and Cell Lines [PDF]

, 2017
Blau, N., Guzman, J.
core  

Avoiding Premature Diagnostic Closure: Lessons from Two Children with Neurotransmitter Disorders Associated with Dual Pathology. [PDF]

Mov Disord Clin Pract
Salazar-Villacorta A, Spaull R, Chowdhury S, Mukhtyar B, Chitre M, Armstrong R, Sa M, Chandratre S, Kini U, Chinthapalli R, Mankad K, Sudhakar S, Pope S, Heales S, Kurian MA.   +14 more
europepmc   +1 more source

Assessment of Free Energies From Electrostatic Embedding Density Functional Tight Binding-Based/Molecular Mechanics in Periodic Boundary Conditions. [PDF]

J Comput Chem
Bonfrate S, Park W, Trejo-Zamora D, Ferré N, Ho Choi C, Huix-Rotllant M.   +5 more
europepmc   +1 more source

セイタイナイ　ガンチッソ　フクソカン　カゴウブツ　ヲ　ユウスル　キンゾク　サクタイ　ノ　コウゾウ　オヨビ　サンカ　カンゲン　セイギョ [PDF]

Inui, Yuji, イヌイ, ユウジ, 乾, 祐巳   +2 more
core