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1 . Academic Journal
Case report: A third variant in the 5′ UTR of TWIST1 creates a novel upstream translation initiation site in a child with Saethre-Chotzen syndrome
저자
by
Francisca Diaz-Gonzalez
;
Javier M. Sacedo-Gutiérrez
;
Stephen R. F. Twigg
;
Eduardo Calpena
;
Fernando E. Carceller-Benito
, et al.
소스
Frontiers in Genetics, Vol 13 (2023)
Open Access (DOAJ)
Web of Science
Scopus
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7 . Academic Journal
Cerebral Insulin Bolus Revokes the Changes in Hepatic Lipid Metabolism Induced by Chronic Central Leptin Infusion
저자
by
Vicente Barrios
;
Elena López-Villar
;
Laura M. Frago
;
Sandra Canelles
;
Francisca Díaz-González
, et al.
소스
Cells, Vol 10, Iss 3, p 581 (2021)
Open Access (DOAJ)
Web of Science
Scopus
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7 .
Clinical and radiological heterogeneity for the rare
FGFR3
variant, p.
Ser344Cys
, description of a third patient
저자
by
Mariana del Pino
;
Victoria Huckstadt
;
Francisca Diaz‐Gonzalez
;
Maria Gabriela Obregon
;
Karen E. Heath
, et al.
소스
American Journal of Medical Genetics Part A
.
Scopus
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7 .
Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia,
RPL13
‐related: Description of 11 further cases
저자
by
Francisca Díaz‐González
;
Manuel Parrón‐Pajares
;
Elsa Lucas‐Castro
;
Silvia Modamio‐HØybjØr
;
Lucia Sentchordi‐Montané
, et al.
소스
Clinical Genetics
.
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7 .
Variable skeletal phenotypes associated with biallelic variants in PRKG2
저자
by
Homa Tajsharghi
;
Kathryn Bailey
;
Katarina Ejeskär
;
Mehran Beiraghi Toosi
;
Mohammad Doosti
, et al.
소스
Journal of Medical Genetics
. 59:947-950
Full Text (BMJ Journals)
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7 .
High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies
저자
by
Silvia Modamio-Høybjør
;
Isabel González-Casado
;
Angel Campos-Barros
;
Francisca Díaz-González
;
José Antonio Bermúdez de la Vega
, et al.
소스
European Journal of Endocrinology
. 185:691-705
Full Text (OUP)
Web of Science
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7 .
Identification of the third
FGF9
variant in a girl with multiple synostosis–comparison of the genotype:phenotype of
FGF9
variants in humans and mice
저자
by
Lucia Sentchordi-Montané
;
Francisca Díaz-González
;
Karen E. Heath
;
Elena V Cátedra-Vallés
.
소스
Clinical Genetics
. 99:309-312
Web of Science
Scopus
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6 .
Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectrum of a very rare type
II
collagenopathy
저자
by
André M. Travessa
;
Manuel Parrón-Pajares
;
Ana Berta Sousa
;
Teresa Mirco
;
Karen E. Heath
, et al.
소스
American Journal of Medical Genetics Part A
. 182:2715-2721
Web of Science
Scopus
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7 .
First case of compound heterozygous
BHLHA9
variants in mesoaxial synostotic syndactyly with phalangeal reduction
저자
by
Francisca Díaz-González
;
Karen E. Heath
;
Ana Barcia‐Ramirez
;
Manuel Parrón-Pajares
.
소스
American Journal of Medical Genetics Part A
. 182:628-631
Web of Science
Scopus
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6 .
Cerebral insulin bolus revokes the changes in hepatic lipid metabolism induced by chronic central leptin infusion
저자
by
Emma Burgos-Ramos
;
Julie A. Chowen
;
Francisca Díaz-González
;
Elena López-Villar
;
Laura M. Frago
, et al.
소스
Cells, Vol 10, Iss 581, p 581 (2021)
Cells
Volume 10
Issue 3
Biblos-e Archivo. Repositorio Institucional de la UAM
instname
Open Access (OpenAIRE)
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