Suchergebnisse - "Garin, Intza"

PubPharm (75)

1

Germline heterozygous exons 8-11 pathogenic BARD1 gene deletion reported for the first time in a family with suspicion of a hereditary colorectal cancer syndrome : more than an incidental finding?

enthalten in: Hereditary cancer in clinical practice | 2023

von Carrera, S. | Rodríguez-Martínez, A. | Garin, I. | +8

2

Germline heterozygous exons 8–11 pathogenic BARD1 gene deletion reported for the first time in a family with suspicion of a hereditary colorectal cancer syndrome: more than an incidental finding?

enthalten in: Hereditary cancer in clinical practice | 2023

von Carrera, S. | Rodríguez-Martínez, A. | Garin, I. | +8

3

Germline heterozygous exons 8–11 pathogenic BARD1 gene deletion reported for the first time in a family with suspicion of a hereditary colorectal cancer syndrome: more than an incidental finding?

enthalten in: Hereditary cancer in clinical practice | 2023

von Carrera, S. | Rodríguez-Martínez, A. | Garin, I. | +8

4

Incidental finding at methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) : how to proceed?

enthalten in: Frontiers in genetics | 2023

von Manero-Azua, A. | Pereda, A. | Llano-Rivas, I. | +2

5

Glucose and galactose malabsorption : A new case in Spain

enthalten in: Anales de pediatria | 2020

von Lodoso-Torrecilla, B. | Perez de Nanclares, G. | Garin, I. | +2

6

Autosomal Dominant Tubulointerstitial Kidney Disease : Clinical Presentation of Patients With ADTKD-UMOD and ADTKD-MUC1

enthalten in: American journal of kidney diseases : the official journal of the National Kidney Foundation | 2018

von Ayasreh, N. | Bullich, G. | Miquel, R. | +16

7

Progressive osseous heteroplasia caused by a mosaic GNAS mutation

enthalten in: Clinical endocrinology | 2018

von Pereda, A. | Martos-Tello, J. | Garin, I. | +2

8

What to consider when pseudohypoparathyroidism is ruled out : iPPSD and differential diagnosis

enthalten in: BMC medical genetics | 2018

von Pereda, A. | Garin, I. | Spanish Network for Imprinting Disorders | +58

9

What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis

enthalten in: BMC medical genetics | 2018

von Pereda, A. | Garin, I. | Perez de Nanclares, G.

10

What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis

enthalten in: BMC medical genetics | 2018

von Pereda, A. | Garin, I. | Perez de Nanclares, G.

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