A. Renieri
发表
Matthew W. Mosconi,
Ryan L. Collins,
Stephan J Sanders,
2019,
Cell.
Stephan J Sanders,
Alicia R. Martin,
K. Roeder,
2018,
Cell.
Matthew W. Mosconi,
Ryan L. Collins,
Stephan J Sanders,
2018,
bioRxiv.
R. Zannolli,
H. Hjalgrim,
M. Bak,
2012,
Clinical genetics.
Francesco Muntoni,
Hanns Lochmüller,
Alessandra Renieri,
2014,
European Journal of Human Genetics.
A. Ballabio,
Y. Pei,
A. Renieri,
1999,
American journal of human genetics.
W. Kaufmann,
P. Huppke,
A. Clarke,
2010,
Annals of neurology.
R. Mantegazza,
M. Mora,
A. Renieri,
2019,
FASEB journal : official publication of the Federation of American Societies for Experimental Biology.
S. Scherer,
J. Rosenfeld,
A. V. Vulto-van Silfhout,
2016,
Molecular Psychiatry.
P. Elliott,
M. Jarvelin,
C. Gieger,
2011,
Nature.
Jie Ding,
G. Garosi,
D. Gale,
2018,
Pediatric nephrology (Berlin, West).
Alessandra Renieri,
Ottavia Spiga,
Giuseppe Hayek,
2008,
American journal of human genetics.
J. Armstrong,
A. Roche,
J. Nectoux,
2009,
Journal of Medical Genetics.
A. Vignoli,
A. Renieri,
E. Veneselli,
2022
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R. Ravazzolo,
M. Bolognesi,
P. Koivisto,
2002,
Human Genetics.
COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome.
G. Mazzucco,
G. Frascà,
D. Roccatello,
2002,
Kidney international.
A. Hoischen,
B. D. de Vries,
L. S. Lucas,
2013,
Orphanet Journal of Rare Diseases.
G. Valacchi,
A. Renieri,
C. De Felice,
2015,
Free radical biology & medicine.
T. Hadjistilianou,
D. Galimberti,
A. Pinto,
2021,
Genes.
A. Ballabio,
D. Pilz,
A. Fogli,
1999,
Annals of neurology.
N. Orzalesi,
A. Renieri,
A. Caporossi,
2003,
Archives of ophthalmology.
J. Richards,
V. Mooser,
A. Renieri,
2020,
International journal of epidemiology.
R. Guerrini,
O. Zuffardi,
A. Renieri,
2012,
American journal of medical genetics. Part A.
F. Ginanneschi,
A. Malandrini,
A. Federico,
2004,
European Neurology.
M. Kinali,
N. Mazarakis,
A. Renieri,
2020,
Brain : a journal of neurology.
M. Zeviani,
P. Gasparini,
E. Lamantea,
2008,
American journal of medical genetics. Part A.
R. Tenconi,
A. Federico,
F. Brancati,
2007,
Journal of Human Genetics.
S. Furini,
F. Colombo,
F. Fava,
2021,
Journal of Hematology & Oncology.
R. Tenconi,
S. Furini,
A. Pinto,
2016,
Brain and Development.
Vav1 Haploinsufficiency in a Common Variable Immunodeficiency Patient with Defective T-Cell Function
M. D’Elios,
C. Baldari,
A. Renieri,
2012,
International journal of immunopathology and pharmacology.
G. Remuzzi,
P. Zipfel,
C. Skerka,
2008,
Proceedings of the National Academy of Sciences.
C. Angelini,
G. Merla,
M. Filocamo,
2013,
Orphanet Journal of Rare Diseases.
S. Furini,
A. Pinto,
C. Fallerini,
2019,
European Journal of Human Genetics.
A. Renieri,
F. Mari,
M. Zappella,
2007,
American journal of medical genetics. Part A.
H. Van Esch,
J. Armstrong,
M. Pineda,
2020,
Clinical genetics.
M. Zacchia,
P. Byers,
M. Gregory,
2021,
European Journal of Human Genetics.
J. LaSalle,
A. Renieri,
M. Mucciolo,
2012,
Journal of Human Genetics.
P. Perin,
C. Fallerini,
A. Renieri,
2020,
American journal of medical genetics. Part A.
I. Winship,
A. Renieri,
F. Mari,
2006,
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.
C. Fallerini,
A. Renieri,
G. Montini,
2020,
Frontiers in Medicine.
J. Clayton-Smith,
A. Nordgren,
B. Dallapiccola,
2020,
Orphanet Journal of Rare Diseases.
P. Rubegni,
A. Federico,
S. Mondillo,
2001,
Human mutation.
Mark M. Davis,
Minyi Shi,
S. Furini,
2022,
Cell Systems.
Gianluca Bontempi,
J. Vermeesch,
T. Lenaerts,
2017,
Genome Medicine.
M. C. Epistolato,
J. Ellis,
A. Renieri,
2011,
European Journal of Human Genetics.
A. Renieri,
G. Morgese,
P. Balestri,
2007,
Brain and Development.
Case report Seizures and electroencephalographic findings in CDKL5 mutations: Case report and review
A. Renieri,
G. Morgese,
P. Balestri,
2007
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M. Girardis,
S. Furini,
F. Fava,
2022,
Viruses.
G. Parati,
A. d’Arminio Monforte,
F. Chiaromonte,
2021,
Communications Biology.
A. Renieri,
F. Mari,
B. Zabel,
2009,
European Journal of Human Genetics.
M. Amador,
A. Clarke,
A. McEwen,
2022,
European Journal of Human Genetics.
G. Cioni,
A. Pinto,
R. Battini,
2021,
Orphanet Journal of Rare Diseases.
S. Ceri,
P. Pinoli,
S. Furini,
2021,
medRxiv.
M. Rocchi,
F. Vitelli,
S. Fineschi,
2000,
Cytogenetic and Genome Research.
A. Renieri,
G. Di Cairano,
G. Cairano,
2001,
Journal of internal medicine.
A. Renieri,
F. Mari,
A. Caporossi,
2006,
Graefe's Archive for Clinical and Experimental Ophthalmology.
L. Leoncini,
T. Megha,
P. Tosi,
2009,
International journal of cancer.
G. Guazzi,
A. Malandrini,
M. Villanova,
1998,
European Neurology.
A. Renieri,
F. Mari,
E. Scala,
2004,
Kidney international.
J. Richards,
V. Mooser,
A. Renieri,
2020,
medRxiv.
G. Frascà,
A. Renieri,
A. Onetti-muda,
2000,
Journal of nephrology.
A. Sessa,
A. Renieri,
M. De Marchi,
1993,
Nephron.
S. Furini,
F. Fava,
C. Fallerini,
2022,
European Journal of Human Genetics.
Eurie L. Hong,
E. F. Perez,
Rachel G Liao,
2022,
Nature.
F. Fava,
M. Filosto,
A. Renieri,
2021,
International journal of molecular sciences.
M. Giustetto,
M. Bonati,
S. Cimini,
2021,
BMC Biology.
A. Renieri,
M. Zappella,
G. Hayek,
2001,
American journal of medical genetics.
Panagiotis I. Koukos,
R. Owens,
Q. Sattentau,
2022
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M. Mondelli,
S. Furini,
F. Fava,
2021,
Genes and immunity.
J. Hell,
F. Vaccarino,
Mario Costa,
2015,
European Journal of Human Genetics.
A. Renieri,
F. Mari,
R. Nuti,
2003,
Journal of medical genetics.
A. Malandrini,
A. Renieri,
F. Mari,
2001,
Clinical genetics.
A. Pinto,
A. Renieri,
F. Ariani,
2016,
Expert review of molecular diagnostics.
Ryan L. Collins,
Jack M. Fu,
Stephan J Sanders,
2022,
Nature Genetics.
E. Strettoi,
E. Novelli,
T. Pizzorusso,
2016,
Neuroscience.
Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin‐binding dynamics
F. Cardarelli,
A. Renieri,
F. Mari,
2012,
Clinical genetics.
A. Pinto,
C. Fallerini,
D. Lopergolo,
2019,
British journal of haematology.
A. Rossi,
A. Federico,
A. Pinto,
2015,
Journal of the Neurological Sciences.
A. Federico,
A. Malandrini,
M. Dotti,
2010,
Journal of Neurology.
K. Devriendt,
G. Scarano,
A. Toutain,
2018,
Genetics in Medicine.
S. Bernasconi,
M. P. Sperandeo,
L. Garavelli,
2009,
American journal of medical genetics. Part A.
L. Dotta,
B. Ogunjimi,
F. Shahram,
2022,
Frontiers in Medicine.
S. Gimelli,
O. Zuffardi,
A. Renieri,
2007,
European journal of medical genetics.
S. Arold,
S. Furini,
A. Pinto,
2022,
Frontiers in Molecular Neuroscience.
A. Renieri,
R. Canitano,
M. Mencarelli,
2022,
Genes.
L. Dagna,
R. Manna,
G. Merlini,
2021,
Frontiers in Medicine.
A. Renieri,
R. Giacomelli,
A. Vitale,
2021,
Therapeutic advances in musculoskeletal disease.
F. Vitelli,
G. Guazzi,
A. Malandrini,
1999,
Muscle & nerve.
Rachel S. Levy-Drummer,
A. Vignoli,
A. Clarke,
2015,
Epilepsia.
F. Bianchi,
G. Cioni,
U. Bonuccelli,
2012,
Neuropediatrics.
M. Cilio,
S. Sartori,
A. Renieri,
2010,
Brain & development (Tokyo. 1979).
A. Renieri,
F. Mari,
C. Kilstrup-Nielsen,
2005
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N. Landsberger,
V. Broccoli,
A. Renieri,
2005,
Human molecular genetics.
A. Renieri,
D. Giachino,
F. Mari,
2005,
Journal of Medical Genetics.
A. Sessa,
A. Renieri,
M. De Marchi,
1994,
Nephron.
A. Vignoli,
A. Clarke,
J. Armstrong,
2019,
International journal of genomics.
A. Vignoli,
A. Renieri,
E. Veneselli,
2010,
Epilepsy & Behavior.
R. Pfundt,
T. Kleefstra,
A. Renieri,
2009,
European journal of medical genetics.
A. Renieri,
F. Mari,
P. Balestri,
2008,
American journal of medical genetics. Part A.
N. Philip,
A. Renieri,
F. Mari,
2010,
American journal of medical genetics. Part A.
S. Furini,
A. Renieri,
F. Mari,
2013,
PloS one.
G. Rizzoni,
T. Faraggiana,
A. Renieri,
1994,
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.
A. Ballabio,
A. Renieri,
M. De Marchi,
1994,
Human mutation.
A. Sessa,
A. Renieri,
U. Valente,
1995,
Nephron.
A. Vignoli,
A. Clarke,
J. Armstrong,
2012,
Human mutation.
A. L. Bulotta,
F. Baldinotti,
P. Simi,
2013,
Gene.
G. Rizzoni,
K. Giannakakis,
T. Faraggiana,
2003,
The Journal of investigative dermatology.
F. Fava,
A. Renieri,
M. Mencarelli,
2019,
Cancer Cell International.
J. Vermeesch,
P. Rubegni,
M. Fimiani,
2015,
Brain and Development.
A. Renieri,
F. Mari,
S. Vicari,
2008,
American journal of medical genetics. Part A.
A. Pinto,
M. Cutolo,
A. Renieri,
2019,
Clinical and experimental rheumatology.
R. Marzella,
D. Chitayat,
Daniela Iaconis,
2008,
Molecular medicine reports.
D. Galimberti,
A. Pinto,
F. Fava,
2020,
Cancer medicine.
A. Renieri,
A. Chernov,
I. Meloni,
2021,
Hematology/oncology and stem cell therapy.
A. Tommasi,
A. Pinto,
Aurora Currò,
2020,
Journal of vascular surgery. Venous and lymphatic disorders.
G. Merla,
L. Sangiorgi,
M. Filocamo,
2016,
Orphanet Journal of Rare Diseases.
A. Hoischen,
L. S. Lucas,
J. Allanson,
2016
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J. Hell,
G. D. Falco,
E. Calcagno,
2014,
European Journal of Human Genetics.
G. Garosi,
A. Pinto,
C. Fallerini,
2019,
Transplantation.
F. Vitelli,
G. Mazzucco,
A. Renieri,
2000,
Journal of medical genetics.
A. Malandrini,
M. Villanova,
A. Renieri,
2003,
Clinical Genetics.
B. Dallapiccola,
A. Savoia,
A. Renieri,
2004,
Human mutation.
C. Bellan,
A. Renieri,
F. Mari,
2009,
Neuroscience.
P. Marynen,
J. Fryns,
M. Raynaud,
2003,
Journal of medical genetics.
R. Stevenson,
C. Schwartz,
N. Leslie,
2010,
American journal of medical genetics. Part A.
H. Ropers,
J. Fryns,
J. Schaffer,
2002,
Nature Genetics.
F. Vitelli,
A. Malandrini,
A. Renieri,
1999,
Genomics.
A. Renieri,
I. Meloni,
C. Pescucci,
2005,
Nature Genetics.
T. Hadjistilianou,
A. Renieri,
P. Toti,
2013,
Acta ophthalmologica.
F. Scolari,
C. Izzi,
A. Renieri,
2011,
Pediatric Nephrology.
Jie Ding,
G. Garosi,
K. Nakanishi,
2018,
Kidney international.
F. Brancati,
G. Ghiggeri,
S. Feriozzi,
2014,
Clinical Genetics.
T. Faraggiana,
K. Giannakakis,
F. Emma,
2013,
Clinical journal of the American Society of Nephrology : CJASN.
G. Rizzoni,
R. Mingarelli,
S. Rossetti,
1998,
Human mutation.
A. Ballabio,
G. Rizzoni,
F. Scolari,
1995,
American journal of medical genetics.
P. Pignatti,
S. Rossetti,
A. Sessa,
1994
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G. Rizzoni,
T. Pihlajaniemi,
A. Renieri,
1992,
Human molecular genetics.
R. Coppo,
G. Frascà,
S. Feriozzi,
2005,
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.
A. Amoroso,
S. Savoldi,
A. Renieri,
2009,
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.
A. Renieri,
M. Seri,
B. Magi,
1992,
International journal of clinical & laboratory research.
F. Westermann,
S. Furini,
A. Iolascon,
2022,
EBioMedicine.
A. Renieri,
F. Mari,
M. Bruttini,
2003,
Journal of nephrology.
A. Renieri,
R. Artuso,
G. Marotta,
2010,
Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation.
A. Pinto,
C. Fallerini,
A. Renieri,
2022,
Journal of clinical medicine.
N. Brunetti‐Pierri,
F. Santorelli,
T. Reimand,
2022,
Human molecular genetics.
Gloria L. Porras-Hurtado,
M. Urioste,
M. Buti,
2022,
Human molecular genetics.
N. Tommerup,
Nadja Ehmke,
A. Vianna-Morgante,
2018,
European Journal of Human Genetics.
A. Tommasi,
A. Pinto,
Aurora Currò,
2020,
JVS-vascular science.
F. Vaccarino,
Flaminia C Lorenzetti,
S. Furini,
2018,
Experimental cell research.
Barbara B. Shih,
C. Ponting,
K. Rawlik,
2020,
Nature.
G. Valacchi,
J. Galano,
T. Durand,
2014,
Oxidative medicine and cellular longevity.
M. Fichera,
C. Romano,
A. Fryer,
2014,
American journal of medical genetics. Part A.
M. Devoto,
P. Rubegni,
M. Fimiani,
1999,
Archives of Dermatological Research.
A. Renieri,
C. Mazzotta,
C. Traversi,
2014,
Case Reports in Ophthalmology.
C. Marcocci,
A. Renieri,
F. Mari,
2008,
Clinical dysmorphology.
A. Ballabio,
M. Gebbia,
R. Lewis,
1995,
Nature Genetics.
A. Renieri,
2010
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F. de Nigris,
A. Meindl,
J. Yates,
1995,
Human molecular genetics.
V. Villani,
Stefano Da Sacco,
R. D. De Filippo,
2019,
Nature Communications.
Alessandra Renieri,
Franco Roviello,
Carla Vindigni,
2007,
Journal of cellular physiology.
T. Pihlajaniemi,
A. Renieri,
E. Hämäläinen,
1996,
Human mutation.
P. Radice,
S. Manoukian,
E. Trevisson,
2019,
Cancers.
A. Giordano,
U. Galderisi,
M. Melone,
2012,
Molecular biology of the cell.
S. Furini,
M. Cubellis,
C. Fallerini,
2021,
Genes.
R. Ravazzolo,
P. Noris,
P. Koivisto,
2003,
Medicine.
Ryan L. Collins,
Jack M. Fu,
Stephan J Sanders,
2021,
medRxiv.
J. Rosenfeld,
M. Fichera,
C. Romano,
2018,
Genetics in Medicine.
J. Rosenfeld,
M. Fichera,
C. Romano,
2018,
bioRxiv.
K. Devriendt,
J. Vermeesch,
P. Sienaert,
2016,
European journal of medical genetics.
Carol J. Saunders,
C. Saunders,
I. Thiffault,
2019,
bioRxiv.
Alessandra Renieri,
Bernard Keavney,
Michael Field,
2015,
Human mutation.
A. Reymond,
G. Scarano,
O. Gabrielli,
2011,
Orphanet journal of rare diseases.
C. Fallerini,
A. Renieri,
F. Cupaioli,
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Genes.
L. Milanesi,
A. Minelli,
C. Magri,
2020,
Scientific Reports.
F. Vitelli,
S. Banfi,
A. Renieri,
1999,
Genomics.
A Ballabio,
A. Ballabio,
F. Vitelli,
1998,
Journal of medical genetics.
G. Borsani,
A. Ballabio,
F. Vitelli,
1998,
Genomics.
Mattia G. Bergomi,
Christopher M. DeBoever,
Matthew A. Wiles,
2021,
Nature.
A. Renieri,
P. Curatolo,
P. Balestri,
2008,
Epilepsy Research.
D. Chaussabel,
J. Casanova,
S. Boughorbel,
2017,
Proceedings of the National Academy of Sciences.
C. Ruivenkamp,
Kayoko Saito,
M. Breuning,
2014,
European journal of medical genetics.
T. Hadjistilianou,
M. C. Epistolato,
S. Lazzi,
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Pathology & Oncology Research.
Takafumi N. Yamaguchi,
Theodore G. Drivas,
Klaudia Walter,
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medRxiv.
D. Goudie,
T. Pippucci,
R. Newbury-Ecob,
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Brain : a journal of neurology.
A. Giordano,
U. Galderisi,
A. Renieri,
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FASEB journal : official publication of the Federation of American Societies for Experimental Biology.
S. Pileri,
M. Iacono,
P. Piccaluga,
2015,
American journal of clinical pathology.
S. Dhanjal,
M. D'Esposito,
M. D'urso,
2001,
Brain and Development.
S. Furini,
A. Pinto,
F. Fava,
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Brain sciences.
A. Novelli,
A. Renieri,
R. Genesio,
2019,
Molecular genetics & genomic medicine.
Carol J. Saunders,
R. Hennekam,
J. Clayton-Smith,
2019,
Clinical genetics.
M. Genuardi,
G. Ferrero,
A. Renieri,
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Italian Journal of Pediatrics.
A. Renieri,
M. Mucciolo,
F. Mari,
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American journal of medical genetics. Part A.
I. Gut,
B. Wirth,
F. Muntoni,
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The Journal of molecular diagnostics : JMD.
M. Fichera,
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Clinica chimica acta; international journal of clinical chemistry.
A. Pinto,
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Aurora Currò,
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Frontiers in Oncology.
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European Journal of Medical Genetics.
F. Vaccarino,
A. Renieri,
F. Mari,
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European Journal of Human Genetics.
A. Renieri,
R. Canitano,
F. Mari,
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Clinical genetics.
K. Devriendt,
J. Vermeesch,
B. Gener,
2013,
Human molecular genetics.
F. Peruzzi,
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2012
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Pieter B. T. Neerincx,
Spencer J. Gibson,
Farid Yavari Dizjikan,
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European Journal of Human Genetics.
Pieter B. T. Neerincx,
Spencer J. Gibson,
Farid Yavari Dizjikan,
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European Journal of Human Genetics.
A. Acquaviva,
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Acta oncologica.
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Journal of Human Genetics.
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Journal of medical genetics.
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Cancer science.
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Journal of cellular biochemistry.
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Vascular.
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T. Hadjistilianou,
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Human mutation.
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European Journal of Human Genetics.
J. Crolla,
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B. Gener,
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European journal of medical genetics.
J. Clayton-Smith,
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Genetics in Medicine.
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Human mutation.
T. Letardi,
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Springer Vienna.
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Simon E Fisher,
A. Monaco,
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European Journal of Human Genetics.
J. LaSalle,
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Journal of Human Genetics.
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American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.
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Clinical genetics.
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Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.
Eliseos J. Mucaki,
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American journal of medical genetics. Part A.
L. Dagna,
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Mediators of inflammation.
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European Journal of Human Genetics.
Roger E. Stevenson,
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A. Pinto,
Aurora Currò,
A. Renieri,
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European journal of medical genetics.
S. Lalani,
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