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Heath, Karen E.
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1

Variants in both the N- or C-terminal domains of IHH lead t..:

Díaz-González, Francisca ; Sentchordi-Montané, Lucía ; Lucas-Castro, Elsa..
European Journal of Endocrinology.  191 (2024)  1 - p. 38-46 , 2024
Link: https://doi.org/10.1093/..
 
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2

ERN BOND: The key European network leveraging diagnosis, re..:

Casareto, Lorena ; Appelman-Dijkstra, Natasha M. ; Brandi, Maria Luisa...
European Journal of Medical Genetics.  68 (2024)  - p. 104916 , 2024
Link: https://doi.org/10.1016/..
 
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3

Evolution of clinical and radiological presentations of spo..:

Díaz‐González, Francisca ; Parrón‐Pajares, Manuel ; Lucas‐Castro, Elsa...
Clinical Genetics.  104 (2023)  1 - p. 100-106 , 2023
Link: https://doi.org/10.1111/..
 
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4

Case report: A third variant in the 5′ UTR of TWIST1 create..:

Diaz-Gonzalez, Francisca ; Sacedo-Gutiérrez, Javier M. ; Twigg, Stephen R. F....
Frontiers in Genetics.  13 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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5

New pathogenic variant in DLX5: New clues for a clinical sp..:

Sifre-Ruiz, Anna ; Sagasta, Amaia ; Santos, Erika..
Frontiers in Genetics.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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6

Two new patients with acromesomelic dysplasia, PRKG2 type—i..:

Akgun-Dogan, Ozlem ; Díaz-González, Francisca ; de Lima Jorge, Alexander Augusto...
European Journal of Human Genetics.  , 2023
Link: https://doi.org/10.1038/..
 
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7

Clinical and radiological heterogeneity for the rare FGFR3 ..:

del Pino, Mariana ; Huckstadt, Victoria ; Diaz‐Gonzalez, Francisca...
American Journal of Medical Genetics Part A.  191 (2023)  8 - p. 2240-2244 , 2023
Link: https://doi.org/10.1002/..
 
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8

Short stature and scoliosis: revealing signs of ultrarare s..:

Rodríguez del Rosario, Silvia ; Modamio-Høybjør, Silvia ; Heath, Karen E..
Anales de Pediatría (English Edition).  99 (2023)  5 - p. 364-365 , 2023
Link: https://doi.org/10.1016/..
 
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9

Unexpected findings in cervical spine in spondylometaphysea..:

Ramos‐Mejía, Rosario ; Heath, Karen E. ; Modamio‐Høybjør, Silvia...
American Journal of Medical Genetics Part A.  194 (2023)  3 - p. , 2023
Link: https://doi.org/10.1002/..
 
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10

Lifetime impact of achondroplasia study in Europe (LIAISE):..:

Maghnie, Mohamad ; Semler, Oliver ; Guillen-Navarro, Encarna...
Orphanet Journal of Rare Diseases.  18 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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11

Talla baja y escoliosis: datos reveladores de displasia esq..:

Rodríguez del Rosario, Silvia ; Modamio-Høybjør, Silvia ; Heath, Karen E..
Anales de Pediatría.  99 (2023)  5 - p. 364-365 , 2023
Link: https://doi.org/10.1016/..
 
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12

Characterization of three adults and an adolescent with Ost..:

Travessa, André M. ; Dias, Patrícia ; Rosmaninho-Salgado, Joana...
European Journal of Medical Genetics.  66 (2023)  11 - p. 104867 , 2023
Link: https://doi.org/10.1016/..
 
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13

Novel FGF9 variant contributes to multiple synostoses syndr..:

Dobson, Stephanie M. ; Kiss, Courtney ; Borschneck, Daniel...
American Journal of Medical Genetics Part A.  188 (2022)  7 - p. 2162-2167 , 2022
Link: https://doi.org/10.1002/..
 
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14

Achondroplasia: Update on diagnosis, follow-up and treatmen:

Leiva-Gea, Antonio ; Martos Lirio, María F. ; Barreda Bonis, Ana Coral...
Anales de Pediatría (English Edition).  97 (2022)  6 - p. 423.e1-423.e11 , 2022
Link: https://doi.org/10.1016/..
 
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15

Precocious puberty and anal stenosis in an African patient ..:

Lorenzo, Cristina ; Travessa, André M. ; Ferreira, Ana Cristóvão...
American Journal of Medical Genetics Part A.  191 (2022)  1 - p. 280-283 , 2022
Link: https://doi.org/10.1002/..
 
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