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Cassatella, Daniele
46  results:
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1

ABCB4 variants in adult patients with cholestatic disease a..:

Avena, Antonella ; Puggelli, Sandro ; Morris, Michael...
Digestive and Liver Disease.  53 (2021)  3 - p. 329-344 , 2021
Link: https://doi.org/10.1016/..
 
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2

A novel CHD7 mutation in an adolescent presenting with grow..:

Antoniou, Maria-Christina ; Bouthors, Thérèse ; Xu, Cheng...
Annals of Pediatric Endocrinology & Metabolism.  24 (2019)  1 - p. 49-54 , 2019
Link: https://doi.org/10.6065/..
 
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3

Defective AMH signaling disrupts GnRH neuron development an..:

Malone, Samuel Andrew ; Papadakis, Georgios E ; Messina, Andrea...
eLife.  8 (2019)  - p. , 2019
Link: https://doi.org/10.7554/..
 
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4

Congenital hypogonadotropic hypogonadism and constitutional..:

Cassatella, Daniele ; Howard, Sasha R ; Acierno, James S...
European Journal of Endocrinology.  178 (2018)  4 - p. 377-388 , 2018
Link: https://doi.org/10.1530/..
 
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5

Evaluating CHARGE syndrome in congenital hypogonadotropic h..:

Xu, Cheng ; Cassatella, Daniele ; van der Sloot, Almer M....
Genetics in Medicine.  20 (2018)  8 - p. 872-881 , 2018
Link: https://doi.org/10.1038/..
 
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6

DCC/NTN1 complex mutations in patients with congenital hypo..:

Bouilly, Justine ; Messina, Andrea ; Papadakis, Georgios...
Human Molecular Genetics.  27 (2017)  2 - p. 359-372 , 2017
Link: https://doi.org/10.1093/..
 
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7

KLB, encoding β‐Klotho, is mutated in patients with congeni..:

Xu, Cheng ; Messina, Andrea ; Somm, Emmanuel...
EMBO Molecular Medicine.  9 (2017)  10 - p. 1379-1397 , 2017
Link: https://doi.org/10.15252..
 
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8

Male infertility and copy number variants (CNVs) in the dog..:

Cassatella, Daniele ; Martino, Nicola Antonio ; Valentini, Luisa...
BMC Genomics.  14 (2013)  1 - p. , 2013
Link: https://doi.org/10.1186/..
 
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9

Neuron-Derived Neurotrophic Factor Is Mutated in Congenital..:

Messina, Andrea ; Pulli, Kristiina ; Santini, Sara...
10.1016/j.ajhg.2019.12.003.  , 2021
Link: http://hdl.handle.net/10..
 
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10

Neuron-Derived Neurotrophic Factor Is Mutated in Congenital..:

Messina, Andrea ; Pulli, Kristiina ; Santini, Sara...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7042563/.  , 2020
Link: http://www.ncbi.nlm.nih...
 
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11

Defective AMH signaling disrupts GnRH neuron development an..:

Malone, Samuel Andrew ; Papadakis, Georgios E ; Messina, Andrea...
European Commission 725149.  , 2019
Link: https://ddd.uab.cat/reco..
 
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12

Congenital hypogonadotropic hypogonadism and constitutional..:

Santini, Sara ; Dwyer, Andrew A ; Santoni, Federico A...
f55047ec-e54c-448f-acec-c5c1c413896b.  , 2018
Link: https://doi.org/10.1530/..
 
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13

Congenital hypogonadotropic hypogonadism and constitutional..:

Cassatella, Daniele ; Howard, Sasha R ; Acierno, James S...
https://boris.unibe.ch/123702/.  , 2018
Link: https://boris.unibe.ch/1..
 
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14

KLB, encoding β‐Klotho, is mutated in patients with congeni..:

Xu, Cheng ; Messina, Andrea ; Somm, Emmanuel...
Xu , C , Messina , A , Somm , E , Miraoui , H , Kinnunen , T , Acierno , J , Niederländer , N J , Bouilly , J , Dwyer , A A , Sidis , Y , Cassatella , D , Sykiotis , G P , Quinton , R , De Geyter , C , Dirlewanger , M , Schwitzgebel , V , Cole , T R , Toogood , A A , Kirk , J M , Plummer , L , Albrecht , U , Crowley , W F , Mohammadi , M , Tena‐sempere , M , Prevot , V & Pitteloud , N 2017 , ' KLB, encoding β‐Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism ' , EMBO Molecular Medicine , vol. 9 , no. 10 , pp. 1379-1397 . https://doi.org/10.15252/emmm.201607376.  , 2017
Link: https://pure.hud.ac.uk/e..
 
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15

KLB , encoding β‐Klotho, is mutated in patients with congen..:

Xu, Cheng ; Messina, Andrea ; Somm, Emmanuel...
info:eu-repo/semantics/altIdentifier/doi/10.15252/emmm.201607376.  , 2017
Link: https://inserm.hal.scien..
 
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