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Aicardi-Goutières syndrome presenting atypically as a sub-acute leukoencephalopathy. [electronic resource] by
- Orcesi, S
- Pessagno, A
- Biancheri, R
- La Piana, R
- Mascaretti, M
- Rossi, A
- Rice, G I
- Crow, Y J
- Fazzi, E
- Veneselli, E
Producer: 20081106
In:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society vol. 12
Availability: No items available.
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14.
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ADA2 deficiency: case report of a new phenotype and novel mutation in two sisters. [electronic resource] by
- Uettwiller, F
- Sarrabay, G
- Rodero, M P
- Rice, G I
- Lagrue, E
- Marot, Y
- Deiva, K
- Touitou, I
- Crow, Y J
- Quartier, P
Producer: 20160602
In:
RMD open vol. 2
Availability: No items available.
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15.
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Two further cases of spondyloenchondrodysplasia (SPENCD) with immune dysregulation. [electronic resource] by
- Navarro, V
- Scott, C
- Briggs, T A
- Barete, S
- Frances, C
- Lebon, P
- Maisonobe, T
- Rice, G I
- Wouters, C H
- Crow, Y J
Producer: 20081209
In:
American journal of medical genetics. Part A vol. 146A
Availability: No items available.
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16.
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Comprehensive molecular screening strategy of OCLN in band-like calcification with simplified gyration and polymicrogyria. [electronic resource] by
- Jenkinson, E M
- Livingston, J H
- O'Driscoll, M C
- Desguerre, I
- Nabbout, R
- Boddaert, N
- Soares, G
- Gonçalves da Rocha, M
- D'Arrigo, S
- Rice, G I
- Crow, Y J
Producer: 20190730
In:
Clinical genetics vol. 93
Availability: No items available.
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17.
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Neprilysin, obesity and the metabolic syndrome. [electronic resource] by
- Standeven, K F
- Hess, K
- Carter, A M
- Rice, G I
- Cordell, P A
- Balmforth, A J
- Lu, B
- Scott, D J
- Turner, A J
- Hooper, N M
- Grant, P J
Producer: 20111115
In:
International journal of obesity (2005) vol. 35
Availability: No items available.
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18.
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Chilblains as a diagnostic sign of aicardi-goutières syndrome. [electronic resource] by
- Abdel-Salam, G M H
- El-Kamah, G Y
- Rice, G I
- El-Darouti, M
- Gornall, H
- Szynkiewicz, M
- Aymard, F
- Zaki, M S
- Abdel-Aleem, A K
- Lebon, P
- Crow, Y J
Producer: 20100923
In:
Neuropediatrics vol. 41
Availability: No items available.
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19.
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Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotype. [electronic resource] by
- Briggs, T A
- Wolf, N I
- D'Arrigo, S
- Ebinger, F
- Harting, I
- Dobyns, W B
- Livingston, J H
- Rice, G I
- Crooks, D
- Rowland-Hill, C A
- Squier, W
- Stoodley, N
- Pilz, D T
- Crow, Y J
Producer: 20090121
In:
American journal of medical genetics. Part A vol. 146A
Availability: No items available.
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20.
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Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi-Goutières and Singleton-Merten syndromes. [electronic resource] by
- Bursztejn, A-C
- Briggs, T A
- del Toro Duany, Y
- Anderson, B H
- O'Sullivan, J
- Williams, S G
- Bodemer, C
- Fraitag, S
- Gebhard, F
- Leheup, B
- Lemelle, I
- Oojageer, A
- Raffo, E
- Schmitt, E
- Rice, G I
- Hur, S
- Crow, Y J
Producer: 20160926
In:
The British journal of dermatology vol. 173
Availability: No items available.
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