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Campos‐Xavier, Belinda
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1

A monoallelicSEC23AvariantE599Kassociated withcranio‐lentic..:

Cisarova, Katarina ; Garavelli, Livia ; Caraffi, Stefano Giuseppe...
American Journal of Medical Genetics Part A.  188 (2021)  1 - p. 319-325 , 2021
Link: https://doi.org/10.1002/..
 
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2

Chondrodysplasia and growth failure in children after early..:

Botto, Lorenzo D. ; Meeths, Marie ; Campos‐Xavier, Belinda...
American Journal of Medical Genetics Part A.  185 (2021)  2 - p. 517-527 , 2021
Link: https://doi.org/10.1002/..
 
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3

Black cartilage: Incidentally discovered articular ochronos..:

Kumps, Camille ; Stanovici, Julien ; Chaibi, Emmelie...
Journal of Inherited Metabolic Disease.  44 (2021)  6 - p. 1503-1504 , 2021
Link: https://doi.org/10.1002/..
 
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4

Immune deficiency, autoimmune disease and intellectual disa..:

Atallah, Isis ; Quinodoz, Mathieu ; Campos‐Xavier, Belinda...
Clinical Genetics.  99 (2021)  6 - p. 780-788 , 2021
Link: https://doi.org/10.1111/..
 
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5

Confirmation of spondylo‐epi‐metaphyseal dysplasia with joi..:

Campos‐Xavier, Belinda ; Rogers, R. Curtis ; Niel‐Bütschi, Florence...
American Journal of Medical Genetics Part A.  176 (2018)  12 - p. 2934-2935 , 2018
Link: https://doi.org/10.1002/..
 
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6

Brief Report: Peripheral Osteolysis in Adults Linked to ASA..:

Bonafé, Luisa ; Kariminejad, Ariana ; Li, Jia...
Arthritis & Rheumatology.  68 (2016)  9 - p. 2323-2327 , 2016
Link: https://doi.org/10.1002/..
 
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7

NBAS mutations cause a multisystem disorder involving bone,..:

Segarra, Nuria Garcia ; Ballhausen, Diana ; Crawford, Heather...
American Journal of Medical Genetics Part A.  167 (2015)  12 - p. 2902-2912 , 2015
Link: https://doi.org/10.1002/..
 
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8

Mutations in LONP1, a mitochondrial matrix protease, cause ..:

Dikoglu, Esra ; Alfaiz, Ali ; Gorna, Maria...
American Journal of Medical Genetics Part A.  167 (2015)  7 - p. 1501-1509 , 2015
Link: https://doi.org/10.1002/..
 
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9

Positive effects of an angiotensin II type 1 receptor antag..:

Simsek‐Kiper, Pelin Ozlem ; Dikoglu, Esra ; Campos‐Xavier, Belinda...
American Journal of Medical Genetics Part A.  164 (2014)  10 - p. 2667-2671 , 2014
Link: https://doi.org/10.1002/..
 
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10

Homozygosity for a novel truncating mutation confirms TBX15..:

Dikoglu, Esra ; Simsek‐Kiper, Pelin Ozlem ; Utine, Gulen Eda...
American Journal of Medical Genetics Part A.  161 (2013)  12 - p. 3161-3165 , 2013
Link: https://doi.org/10.1002/..
 
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11

Whole‐exome sequencing detects somatic mutations of IDH1 in..:

Vissers, Lisenka E.L.M. ; Fano, Virginia ; Martinelli, Diego...
American Journal of Medical Genetics Part A.  155 (2011)  11 - p. 2609-2616 , 2011
Link: https://doi.org/10.1002/..
 
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12

New Dominant-Negative IL6ST Variants Expand the Immunologic..:

Arlabosse, Tiphaine ; Materna, Marie ; Riccio, Orbicia...
Journal of Clinical Immunology.  , 2023
Link: https://doi.org/10.1007/..
 
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13

Correction to: New Dominant‑Negative IL6ST Variants Expand ..:

Arlabosse, Tiphaine ; Materna, Marie ; Riccio, Orbicia...
Journal of Clinical Immunology.  , 2023
Link: https://doi.org/10.1007/..
 
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14

Clinical and Molecular Diagnosis of Osteocraniostenosis in ..:

Rosato, Simonetta ; Unger, Sheila ; Campos-Xavier, Belinda...
Genes.  13 (2022)  2 - p. 261 , 2022
Link: https://doi.org/10.3390/..
 
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15

Elevated lactate in Mauriac syndrome: still a mystery:

Touilloux, Brice ; Lu, Henri ; Campos-Xavier, Belinda...
BMC Endocrine Disorders.  21 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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