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Maria Güemes
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Journal Articles

Primary Dwarfism, Microcephaly, and Chorioretinopathy due to a PLK4 Mutation in Two Siblings

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Subject Area:
Endocrinology , Women's and Children's Health
Álvaro Martín-Rivada, Jesús Pozo-Román, María Güemes, Nelmar Valentina Ortiz-Cabrera, Luis A. Pérez-Jurado, Jesús Argente
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2021) 93 (9-10): 567–572.
https://doi.org/10.1159/000514280
Published Online: 23 March 2021
View articletitled, Primary Dwarfism, Microcephaly, and Chorioretinopathy due to a PLK4 Mutation in Two Siblings
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Journal Articles

LZTR1 : Genotype Expansion in Noonan Syndrome

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Subject Area:
Endocrinology , Women's and Children's Health
María Güemes, Álvaro Martín-Rivada, Neimar Valentina Ortiz-Cabrera, Gabriel Ángel Martos-Moreno, Jesús Pozo-Román, Jesús Argente
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2020) 92 (4): 269–275.
https://doi.org/10.1159/000502741
Published Online: 18 September 2019
View articletitled, LZTR1 : Genotype Expansion in Noonan Syndrome
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Journal Articles

The Use of a Long-Acting Somatostatin Analogue (Lanreotide) in Three Children with Focal Forms of Congenital Hyperinsulinaemic Hypoglycaemia

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Subject Area:
Endocrinology , Women's and Children's Health
Antonia Dastamani, Maria Güemes, Catherine Pitfield, Kate Morgan, Mansoor Rajab, Christof Rottenburger, Jamshed Bomanji, Paolo De Coppi, Mehul Dattani, Pratik Shah
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2019) 91 (1): 56–61.
https://doi.org/10.1159/000491101
Published Online: 16 August 2018
View articletitled, The Use of a Long-Acting Somatostatin Analogue (Lanreotide) in Three Children with Focal Forms of Congenital Hyperinsulinaemic Hypoglycaemia
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Journal Articles

Post-Prandial Hyperinsulinaemic Hypoglycaemia after Oesophageal Surgery in Children

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Subject Area:
Endocrinology , Women's and Children's Health
Antonia Dastamani, Neha Malhorta, Maria Güemes, Kate Morgan, Clare M. Rees, Mehul Dattani, Pratik Shah
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2019) 91 (3): 216–220.
https://doi.org/10.1159/000491647
Published Online: 09 August 2018
View articletitled, Post-Prandial Hyperinsulinaemic Hypoglycaemia after Oesophageal Surgery in Children
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Journal Articles

Hepatocyte Nuclear Factor-4 Alfa Mutation Associated with Hyperinsulinaemic Hypoglycaemia and Atypical Renal Fanconi Syndrome: Expanding the Clinical Phenotype

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Subject Area:
Endocrinology , Women's and Children's Health
Nicola Improda, Pratik Shah, Maria Güemes, Clare Gilbert, Kate Morgan, Neil Sebire, Detlef Bockenhauer, Khalid Hussain
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2016) 86 (5): 337–341.
https://doi.org/10.1159/000446396
Published Online: 01 June 2016
View articletitled, Hepatocyte Nuclear Factor-4 Alfa Mutation Associated with Hyperinsulinaemic Hypoglycaemia and Atypical Renal Fanconi Syndrome: Expanding the Clinical Phenotype
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Journal Articles

Severe Hyperinsulinaemic Hypoglycaemia in Beckwith-Wiedemann Syndrome due to Paternal Uniparental Disomy of 11p15.5 Managed with Sirolimus Therapy

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Subject Area:
Topic Article Package: Pharmacology 2016 , Endocrinology , Women's and Children's Health
Maria Güemes, Pratik Shah, Klára Roženková, Clare Gilbert, Kate Morgan, Khalid Hussain
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2016) 85 (5): 353–357.
https://doi.org/10.1159/000443398
Published Online: 11 February 2016
View articletitled, Severe Hyperinsulinaemic Hypoglycaemia in Beckwith-Wiedemann Syndrome due to Paternal Uniparental Disomy of 11p15.5 Managed with Sirolimus Therapy
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