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1 . Academic Journal
CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings
저자
by
Antonio F. Martínez-Monseny
;
Albert Edo
;
Dídac Casas-Alba
;
Mercè Izquierdo-Serra
;
Mercè Bolasell
, et al.
소스
International Journal of Molecular Sciences, Vol 22, Iss 10, p 5180 (2021)
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7 . Academic Journal
Seudoacondroplasia: descripción de un caso de novo y otro familiar
저자
by
Dídac Casas-Alba
;
Anna Fernández López
;
Esther Gean Molins
;
Patricia Suero Toledano
;
Antonio Martínez-Monseny
.
소스
Anales de Pediatría, Vol 89, Iss 1, Pp 60-61 (2018)
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7 . Academic Journal
Pseudoachondroplasia: Descriptions of a de novo and familial case
저자
by
Dídac Casas-Alba
;
Anna Fernández López
;
Esther Gean Molins
;
Patricia Suero Toledano
;
Antonio Martínez-Monseny
.
소스
Anales de Pediatría (English Edition), Vol 89, Iss 1, Pp 60-61 (2018)
Full Text (ScienceDirect)
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7 .
Relationship Between Epileptic Activity and Developmental Outcome in KCNQ2-Related Epilepsy
저자
by
Dídac Casas-Alba
;
Anna Aguilar
;
Itziar Alonso
;
María Teresa García
;
Maria Roberta Cilio
, et al.
소스
Pediatric Neurology
. 144:11-15
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7 .
Diagnostic strategies in patients with undiagnosed and rare diseases
저자
by
Dídac Casas-Alba
;
Janet Hoenicka
;
Alba Vilanova-Adell
;
Lourdes Vega-Hanna
;
Jordi Pijuan
, et al.
소스
Journal of Translational Genetics and Genomics
. 6:322-332
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7 .
Efficacy of baricitinib on chronic pericardial effusion in a patient with Aicardi–Goutières syndrome
저자
by
Jordi Anton
;
Àngels García-Cazorla
;
Dídac Casas-Alba
;
Adeline Vanderver
;
Thaís Armangue
, et al.
소스
Rheumatology (Oxford)
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7 .
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: Addition of 67 new patients
저자
by
Elena Martinez-Cayuelas
;
Fiona Blanco-Kelly
;
Fermina Lopez-Grondona
;
Saoud Tahsin Swafiri
;
Rosario Lopez-Rodriguez
, et al.
소스
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7 .
Okur‐Chung neurodevelopmental syndrome in a patient from Spain
저자
by
Jordi Muchart
;
Dídac Casas-Alba
;
Alfredo García-Alix
;
Antonio Martinez-Monseny
;
Federico Ramos
, et al.
소스
American Journal of Medical Genetics Part A
. 182:20-24
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7 .
Targeted therapy with galantamine in a pediatric patient with 15q13.3 deletion syndrome
저자
by
Gregorio Alexander Nolasco
;
Marcela Mezzatesta
;
Dídac Casas-Alba
;
Carmen Fons
;
Gemma Balañá
, et al.
소스
American journal of medical genetics. Part A
. 185(12)
Scopus
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7 .
Cerebrospinal Fluid Neopterin in Children With Enterovirus-Related Brainstem Encephalitis
저자
by
Claudia Fortuny
;
María Cabrerizo
;
Ana Valero-Rello
;
Iolanda Jordan
;
Thaís Armangue
, et al.
소스
Pediatric Neurology
. 96:70-73
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