共 15 条
[1]
IDENTIFICATION OF A MUTATION IN THE CODING SEQUENCE OF THE HUMAN THYROID PEROXIDASE GENE CAUSING CONGENITAL GOITER
[J].
ABRAMOWICZ, MJ
;
TARGOVNIK, HM
;
VARELA, V
;
COCHAUX, P
;
KRAWIEC, L
;
PISAREV, MA
;
PROPATO, FVE
;
JUVENAL, G
;
CHESTER, HA
;
VASSART, G
.
JOURNAL OF CLINICAL INVESTIGATION,
1992, 90 (04)
:1200-1204

ABRAMOWICZ, MJ
论文数: 0 引用数: 0
h-index: 0
机构: COMISS NACL ENERGIA ATOM,DIV BIOQUIM NUCL GERENCIA APLICACIONES,RA-1429 BUENOS AIRES,ARGENTINA

TARGOVNIK, HM
论文数: 0 引用数: 0
h-index: 0
机构: COMISS NACL ENERGIA ATOM,DIV BIOQUIM NUCL GERENCIA APLICACIONES,RA-1429 BUENOS AIRES,ARGENTINA

VARELA, V
论文数: 0 引用数: 0
h-index: 0
机构: COMISS NACL ENERGIA ATOM,DIV BIOQUIM NUCL GERENCIA APLICACIONES,RA-1429 BUENOS AIRES,ARGENTINA

COCHAUX, P
论文数: 0 引用数: 0
h-index: 0
机构: COMISS NACL ENERGIA ATOM,DIV BIOQUIM NUCL GERENCIA APLICACIONES,RA-1429 BUENOS AIRES,ARGENTINA

KRAWIEC, L
论文数: 0 引用数: 0
h-index: 0
机构: COMISS NACL ENERGIA ATOM,DIV BIOQUIM NUCL GERENCIA APLICACIONES,RA-1429 BUENOS AIRES,ARGENTINA

PISAREV, MA
论文数: 0 引用数: 0
h-index: 0
机构: COMISS NACL ENERGIA ATOM,DIV BIOQUIM NUCL GERENCIA APLICACIONES,RA-1429 BUENOS AIRES,ARGENTINA

PROPATO, FVE
论文数: 0 引用数: 0
h-index: 0
机构: COMISS NACL ENERGIA ATOM,DIV BIOQUIM NUCL GERENCIA APLICACIONES,RA-1429 BUENOS AIRES,ARGENTINA

JUVENAL, G
论文数: 0 引用数: 0
h-index: 0
机构: COMISS NACL ENERGIA ATOM,DIV BIOQUIM NUCL GERENCIA APLICACIONES,RA-1429 BUENOS AIRES,ARGENTINA

CHESTER, HA
论文数: 0 引用数: 0
h-index: 0
机构: COMISS NACL ENERGIA ATOM,DIV BIOQUIM NUCL GERENCIA APLICACIONES,RA-1429 BUENOS AIRES,ARGENTINA

VASSART, G
论文数: 0 引用数: 0
h-index: 0
机构: COMISS NACL ENERGIA ATOM,DIV BIOQUIM NUCL GERENCIA APLICACIONES,RA-1429 BUENOS AIRES,ARGENTINA
[2]
High prevalence of thyroid peroxidase gene mutations in patients with thyroid dyshormonogenesis
[J].
Avbelj, Magdalena
;
Tahirovic, Husref
;
Debeljak, Marusa
;
Kusekova, Maria
;
Toromanovic, Alma
;
Krzisnik, Ciril
;
Battelino, Tadej
.
EUROPEAN JOURNAL OF ENDOCRINOLOGY,
2007, 156 (05)
:511-519

Avbelj, Magdalena
论文数: 0 引用数: 0
h-index: 0
机构: Univ Childrens Hosp, Ctr Med, SI-1000 Ljubljana, Slovenia

Tahirovic, Husref
论文数: 0 引用数: 0
h-index: 0
机构: Univ Childrens Hosp, Ctr Med, SI-1000 Ljubljana, Slovenia

Debeljak, Marusa
论文数: 0 引用数: 0
h-index: 0
机构: Univ Childrens Hosp, Ctr Med, SI-1000 Ljubljana, Slovenia

Kusekova, Maria
论文数: 0 引用数: 0
h-index: 0
机构: Univ Childrens Hosp, Ctr Med, SI-1000 Ljubljana, Slovenia

Toromanovic, Alma
论文数: 0 引用数: 0
h-index: 0
机构: Univ Childrens Hosp, Ctr Med, SI-1000 Ljubljana, Slovenia

Krzisnik, Ciril
论文数: 0 引用数: 0
h-index: 0
机构: Univ Childrens Hosp, Ctr Med, SI-1000 Ljubljana, Slovenia

Battelino, Tadej
论文数: 0 引用数: 0
h-index: 0
机构: Univ Childrens Hosp, Ctr Med, SI-1000 Ljubljana, Slovenia
[3]
Increased incidence of congenital hypothyroidism in France from 1982 to 2012: a nationwide multicenter analysis
[J].
Barry, Yaya
;
Bonaldi, Christophe
;
Goulet, Veronique
;
Coutant, Regis
;
Leger, Juliane
;
Paty, Annie-Claude
;
Delmas, Dominique
;
Cheillan, David
;
Roussey, Michel
.
ANNALS OF EPIDEMIOLOGY,
2016, 26 (02)
:100-105

Barry, Yaya
论文数: 0 引用数: 0
h-index: 0
机构:
French Inst Publ Hlth Surveillance, Dept Chron Dis & Injuries, 12 Rue Val Osne, F-94415 St Maurice, France French Inst Publ Hlth Surveillance, Dept Chron Dis & Injuries, 12 Rue Val Osne, F-94415 St Maurice, France

Bonaldi, Christophe
论文数: 0 引用数: 0
h-index: 0
机构:
French Inst Publ Hlth Surveillance, Dept Chron Dis & Injuries, 12 Rue Val Osne, F-94415 St Maurice, France French Inst Publ Hlth Surveillance, Dept Chron Dis & Injuries, 12 Rue Val Osne, F-94415 St Maurice, France

Goulet, Veronique
论文数: 0 引用数: 0
h-index: 0
机构:
French Inst Publ Hlth Surveillance, Dept Chron Dis & Injuries, 12 Rue Val Osne, F-94415 St Maurice, France French Inst Publ Hlth Surveillance, Dept Chron Dis & Injuries, 12 Rue Val Osne, F-94415 St Maurice, France

Coutant, Regis
论文数: 0 引用数: 0
h-index: 0
机构:
French Assoc Screening & Prevent Child Handicaps, Paris, France
CHU Angers, Unite Endocrinol Diabetol Pediat, Angers, France
Ctr Malad Rares Recept Hormonale, Angers, France French Inst Publ Hlth Surveillance, Dept Chron Dis & Injuries, 12 Rue Val Osne, F-94415 St Maurice, France

Leger, Juliane
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Robert Debre, Assistance Publ Hop Paris, Serv Endocrinol Diabetol Pediat, Ctr Reference Malad Endocriniennes Rares Croissan, F-75019 Paris, France
Univ Paris Diderot, Sorbonne Paris Cite, Paris, France
INSERM, U1141, DHU Protect, Paris, France French Inst Publ Hlth Surveillance, Dept Chron Dis & Injuries, 12 Rue Val Osne, F-94415 St Maurice, France

Paty, Annie-Claude
论文数: 0 引用数: 0
h-index: 0
机构:
French Inst Publ Hlth Surveillance, Reg Unit, French Inst Publ Hlth Surveillance CIRE Ile de Fr, Paris, France French Inst Publ Hlth Surveillance, Dept Chron Dis & Injuries, 12 Rue Val Osne, F-94415 St Maurice, France

Delmas, Dominique
论文数: 0 引用数: 0
h-index: 0
机构:
French Assoc Screening & Prevent Child Handicaps, Paris, France French Inst Publ Hlth Surveillance, Dept Chron Dis & Injuries, 12 Rue Val Osne, F-94415 St Maurice, France

Cheillan, David
论文数: 0 引用数: 0
h-index: 0
机构:
French Assoc Screening & Prevent Child Handicaps, Paris, France
Hosp Civils Lyon, Serv Malad Hereditaires Metab & Depistage Neonata, Ctr Biol & Pathol Est, Lyon, France
Univ Lyon 1, INSERM, U1060, F-69365 Lyon, France French Inst Publ Hlth Surveillance, Dept Chron Dis & Injuries, 12 Rue Val Osne, F-94415 St Maurice, France

Roussey, Michel
论文数: 0 引用数: 0
h-index: 0
机构:
French Assoc Screening & Prevent Child Handicaps, Paris, France
CHU Rennes, Pole Pediat Medicochirurg & Genet Clin, Rennes, France
Univ Rennes 1, Fac Med, Rennes, France French Inst Publ Hlth Surveillance, Dept Chron Dis & Injuries, 12 Rue Val Osne, F-94415 St Maurice, France
[4]
Mutations in BOREALIN cause thyroid dysgenesis
[J].
Carre, Aurore
;
Stoupa, Athanasia
;
Kariyawasam, Dulanjalee
;
Gueriouz, Manelle
;
Ramond, Cyrille
;
Monus, Taylor
;
Leger, Juliane
;
Gaujoux, Sebastien
;
Sebag, Frederic
;
Glaser, Nicolas
;
Zenaty, Delphine
;
Nitschke, Patrick
;
Bole-Feysot, Christine
;
Hubert, Laurence
;
Lyonnet, Stanislas
;
Scharfmann, Raphael
;
Munnich, Arnold
;
Besmond, Claude
;
Taylor, William
;
Polak, Michel
.
HUMAN MOLECULAR GENETICS,
2017, 26 (03)
:599-610

Carre, Aurore
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, Sorbonne Paris Cite, Fac Med, INSERM,Cochin Inst U1016, Paris, France
IMAGINE Inst Affiliate, Paris, France Univ Paris 05, Sorbonne Paris Cite, Fac Med, INSERM,Cochin Inst U1016, Paris, France

Stoupa, Athanasia
论文数: 0 引用数: 0
h-index: 0
机构:
IMAGINE Inst Affiliate, Paris, France
Hop Univ Necker Enfants Malades, AP HP, Pediat Endocrinol Gynecol & Diabetol Unit, Paris, France Univ Paris 05, Sorbonne Paris Cite, Fac Med, INSERM,Cochin Inst U1016, Paris, France

Kariyawasam, Dulanjalee
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, Sorbonne Paris Cite, Fac Med, INSERM,Cochin Inst U1016, Paris, France
Hop Univ Necker Enfants Malades, AP HP, Pediat Endocrinol Gynecol & Diabetol Unit, Paris, France Univ Paris 05, Sorbonne Paris Cite, Fac Med, INSERM,Cochin Inst U1016, Paris, France

Gueriouz, Manelle
论文数: 0 引用数: 0
h-index: 0
机构:
IMAGINE Inst Affiliate, Paris, France Univ Paris 05, Sorbonne Paris Cite, Fac Med, INSERM,Cochin Inst U1016, Paris, France

Ramond, Cyrille
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, Sorbonne Paris Cite, Fac Med, INSERM,Cochin Inst U1016, Paris, France Univ Paris 05, Sorbonne Paris Cite, Fac Med, INSERM,Cochin Inst U1016, Paris, France

Monus, Taylor
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Toledo, Dept Biol Sci, Toledo, OH USA Univ Paris 05, Sorbonne Paris Cite, Fac Med, INSERM,Cochin Inst U1016, Paris, France

Leger, Juliane
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Univ Robert Debre, AP HP, Pediat Endocrinol Unit, Paris, France
Ctr Malad Endocriniennes Rares Croissance, RARE Disorder Ctr, Paris, France Univ Paris 05, Sorbonne Paris Cite, Fac Med, INSERM,Cochin Inst U1016, Paris, France

论文数: 引用数:
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机构:

Sebag, Frederic
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Conception, Dept Gen Endocrine & Metab Surg, Marseille, France Univ Paris 05, Sorbonne Paris Cite, Fac Med, INSERM,Cochin Inst U1016, Paris, France

Glaser, Nicolas
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, Sorbonne Paris Cite, Fac Med, INSERM,Cochin Inst U1016, Paris, France Univ Paris 05, Sorbonne Paris Cite, Fac Med, INSERM,Cochin Inst U1016, Paris, France

Zenaty, Delphine
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Univ Robert Debre, AP HP, Pediat Endocrinol Unit, Paris, France Univ Paris 05, Sorbonne Paris Cite, Fac Med, INSERM,Cochin Inst U1016, Paris, France

Nitschke, Patrick
论文数: 0 引用数: 0
h-index: 0
机构:
Paris Descartes Univ, IMAGINE Inst, Bioinformat Platform, Paris, France Univ Paris 05, Sorbonne Paris Cite, Fac Med, INSERM,Cochin Inst U1016, Paris, France

Bole-Feysot, Christine
论文数: 0 引用数: 0
h-index: 0
机构:
Paris Descartes Sorbonne Paris Cite Univ, Imagine Inst, INSERM UMR 1163, Genom Platform, Paris, France Univ Paris 05, Sorbonne Paris Cite, Fac Med, INSERM,Cochin Inst U1016, Paris, France

Hubert, Laurence
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, Sorbonne Paris Cite, IMAGINE Inst, INSERM U1163, Paris, France Univ Paris 05, Sorbonne Paris Cite, Fac Med, INSERM,Cochin Inst U1016, Paris, France

Lyonnet, Stanislas
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, Sorbonne Paris Cite, IMAGINE Inst, INSERM U1163, Paris, France
Hop Univ Necker Enfants Malades, AP HP, Dept Genet, Paris, France Univ Paris 05, Sorbonne Paris Cite, Fac Med, INSERM,Cochin Inst U1016, Paris, France

Scharfmann, Raphael
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris 05, Sorbonne Paris Cite, Fac Med, INSERM,Cochin Inst U1016, Paris, France

Munnich, Arnold
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, Sorbonne Paris Cite, IMAGINE Inst, INSERM U1163, Paris, France
Hop Univ Necker Enfants Malades, AP HP, Dept Genet, Paris, France Univ Paris 05, Sorbonne Paris Cite, Fac Med, INSERM,Cochin Inst U1016, Paris, France

论文数: 引用数:
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Taylor, William
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Toledo, Dept Biol Sci, Toledo, OH USA Univ Paris 05, Sorbonne Paris Cite, Fac Med, INSERM,Cochin Inst U1016, Paris, France

论文数: 引用数:
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[5]
A frequent oligogenic involvement in congenital hypothyroidism
[J].
de Filippis, Tiziana
;
Gelmini, Giulia
;
Paraboschi, Elvezia
;
Vigone, Maria Cristina
;
Di Frenna, Marianna
;
Marelli, Federica
;
Bonomi, Marco
;
Cassio, Alessandra
;
Larizza, Daniela
;
Moro, Mirella
;
Radetti, Giorgio
;
Salerno, Mariacarolina
;
Ardissino, Diego
;
Weber, Giovanna
;
Gentilini, Davide
;
Guizzardi, Fabiana
;
Duga, Stefano
;
Persani, Luca
.
HUMAN MOLECULAR GENETICS,
2017, 26 (13)
:2507-2514

de Filippis, Tiziana
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS Ist Auxol Italiano, Div Endocrine & Metab Dis, Milan, Italy
IRCCS Ist Auxol Italiano, Labs Endocrine & Metab Res Mol Biol, Milan, Italy IRCCS Ist Auxol Italiano, Div Endocrine & Metab Dis, Milan, Italy

Gelmini, Giulia
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS Ist Auxol Italiano, Div Endocrine & Metab Dis, Milan, Italy
IRCCS Ist Auxol Italiano, Labs Endocrine & Metab Res Mol Biol, Milan, Italy IRCCS Ist Auxol Italiano, Div Endocrine & Metab Dis, Milan, Italy

Paraboschi, Elvezia
论文数: 0 引用数: 0
h-index: 0
机构:
Humanitas Univ, Dept Biomed Sci, I-20089 Milan, Italy
Humanitas Clin & Res Ctr, I-20089 Milan, Italy IRCCS Ist Auxol Italiano, Div Endocrine & Metab Dis, Milan, Italy

Vigone, Maria Cristina
论文数: 0 引用数: 0
h-index: 0
机构:
Osped San Raffaele, Milan, Italy
Univ Vita Salute San Raffaele, Milan, Italy IRCCS Ist Auxol Italiano, Div Endocrine & Metab Dis, Milan, Italy

Di Frenna, Marianna
论文数: 0 引用数: 0
h-index: 0
机构:
Osped San Raffaele, Milan, Italy
Univ Vita Salute San Raffaele, Milan, Italy IRCCS Ist Auxol Italiano, Div Endocrine & Metab Dis, Milan, Italy

Marelli, Federica
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS Ist Auxol Italiano, Div Endocrine & Metab Dis, Milan, Italy
IRCCS Ist Auxol Italiano, Labs Endocrine & Metab Res Mol Biol, Milan, Italy IRCCS Ist Auxol Italiano, Div Endocrine & Metab Dis, Milan, Italy

Bonomi, Marco
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS Ist Auxol Italiano, Div Endocrine & Metab Dis, Milan, Italy
IRCCS Ist Auxol Italiano, Labs Endocrine & Metab Res Mol Biol, Milan, Italy
Univ Milan, Dept Clin Sci & Community Hlth DISCCO, Milan, Italy IRCCS Ist Auxol Italiano, Div Endocrine & Metab Dis, Milan, Italy

Cassio, Alessandra
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bologna, Dept Pediat, Bologna, Italy IRCCS Ist Auxol Italiano, Div Endocrine & Metab Dis, Milan, Italy

Larizza, Daniela
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Pavia, Dept Pediat, IRCCS Policlin San Matteo, Pavia, Italy IRCCS Ist Auxol Italiano, Div Endocrine & Metab Dis, Milan, Italy

Moro, Mirella
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS Ist Auxol Italiano, Div Endocrine & Metab Dis, Milan, Italy
IRCCS Ist Auxol Italiano, Labs Endocrine & Metab Res Mol Biol, Milan, Italy IRCCS Ist Auxol Italiano, Div Endocrine & Metab Dis, Milan, Italy

Radetti, Giorgio
论文数: 0 引用数: 0
h-index: 0
机构:
Bolzano Hosp, Bolzano, Italy IRCCS Ist Auxol Italiano, Div Endocrine & Metab Dis, Milan, Italy

论文数: 引用数:
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机构:

Ardissino, Diego
论文数: 0 引用数: 0
h-index: 0
机构:
Parma Univ Hosp, Cardiol Dept, Parma, Italy IRCCS Ist Auxol Italiano, Div Endocrine & Metab Dis, Milan, Italy

Weber, Giovanna
论文数: 0 引用数: 0
h-index: 0
机构:
Osped San Raffaele, Milan, Italy
Univ Vita Salute San Raffaele, Milan, Italy IRCCS Ist Auxol Italiano, Div Endocrine & Metab Dis, Milan, Italy

Gentilini, Davide
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS Ist Auxol Italiano, Div Endocrine & Metab Dis, Milan, Italy
IRCCS Ist Auxol Italiano, Labs Endocrine & Metab Res Mol Biol, Milan, Italy IRCCS Ist Auxol Italiano, Div Endocrine & Metab Dis, Milan, Italy

Guizzardi, Fabiana
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS Ist Auxol Italiano, Div Endocrine & Metab Dis, Milan, Italy
IRCCS Ist Auxol Italiano, Labs Endocrine & Metab Res Mol Biol, Milan, Italy IRCCS Ist Auxol Italiano, Div Endocrine & Metab Dis, Milan, Italy

Duga, Stefano
论文数: 0 引用数: 0
h-index: 0
机构:
Humanitas Univ, Dept Biomed Sci, I-20089 Milan, Italy
Humanitas Clin & Res Ctr, I-20089 Milan, Italy IRCCS Ist Auxol Italiano, Div Endocrine & Metab Dis, Milan, Italy

Persani, Luca
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS Ist Auxol Italiano, Div Endocrine & Metab Dis, Milan, Italy
IRCCS Ist Auxol Italiano, Labs Endocrine & Metab Res Mol Biol, Milan, Italy
Univ Milan, Dept Clin Sci & Community Hlth DISCCO, Milan, Italy IRCCS Ist Auxol Italiano, Div Endocrine & Metab Dis, Milan, Italy
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Is the Incidence of Congenital Hypothyroidism Really Increasing? A 20-Year Retrospective Population-Based Study in Quebec
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Deladoey, Johnny
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Ruel, Jean
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Giguere, Yves
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Van Vliet, Guy
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JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM,
2011, 96 (08)
:2422-2429

Deladoey, Johnny
论文数: 0 引用数: 0
h-index: 0
机构:
St Justine Hosp, Serv Endocrinol, Montreal, PQ H3T 1C5, Canada
St Justine Hosp, Res Ctr, Montreal, PQ H3T 1C5, Canada St Justine Hosp, Serv Endocrinol, Montreal, PQ H3T 1C5, Canada

Ruel, Jean
论文数: 0 引用数: 0
h-index: 0
机构:
Ctr Hosp Univ Laval, Quebec Neonatal Screening Lab, Quebec City, PQ G1V 4G2, Canada St Justine Hosp, Serv Endocrinol, Montreal, PQ H3T 1C5, Canada

Giguere, Yves
论文数: 0 引用数: 0
h-index: 0
机构:
Ctr Hosp Univ Laval, Quebec Neonatal Screening Lab, Quebec City, PQ G1V 4G2, Canada St Justine Hosp, Serv Endocrinol, Montreal, PQ H3T 1C5, Canada

Van Vliet, Guy
论文数: 0 引用数: 0
h-index: 0
机构:
St Justine Hosp, Serv Endocrinol, Montreal, PQ H3T 1C5, Canada
St Justine Hosp, Res Ctr, Montreal, PQ H3T 1C5, Canada St Justine Hosp, Serv Endocrinol, Montreal, PQ H3T 1C5, Canada
[7]
Deladoey Johnny, 2007, V10, P29, DOI 10.1159/000106818
[8]
A missense mutation G2320R in the thyroglobulin gene causes nongoitrous congenital primary hypothyroidism in the WIC-rdw rat
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Kim, PS
;
Ding, M
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Menon, S
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Jung, CG
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Cheng, JM
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Miyamoto, T
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Li, BL
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Agui, T
.
MOLECULAR ENDOCRINOLOGY,
2000, 14 (12)
:1944-1953

Kim, PS
论文数: 0 引用数: 0
h-index: 0
机构: Nagoya City Univ, Sch Med, Ctr Expt Anim Sci, Mizuho Ku, Aichi 4678601, Japan

Ding, M
论文数: 0 引用数: 0
h-index: 0
机构: Nagoya City Univ, Sch Med, Ctr Expt Anim Sci, Mizuho Ku, Aichi 4678601, Japan

Menon, S
论文数: 0 引用数: 0
h-index: 0
机构: Nagoya City Univ, Sch Med, Ctr Expt Anim Sci, Mizuho Ku, Aichi 4678601, Japan

Jung, CG
论文数: 0 引用数: 0
h-index: 0
机构: Nagoya City Univ, Sch Med, Ctr Expt Anim Sci, Mizuho Ku, Aichi 4678601, Japan

Cheng, JM
论文数: 0 引用数: 0
h-index: 0
机构: Nagoya City Univ, Sch Med, Ctr Expt Anim Sci, Mizuho Ku, Aichi 4678601, Japan

Miyamoto, T
论文数: 0 引用数: 0
h-index: 0
机构: Nagoya City Univ, Sch Med, Ctr Expt Anim Sci, Mizuho Ku, Aichi 4678601, Japan

Li, BL
论文数: 0 引用数: 0
h-index: 0
机构: Nagoya City Univ, Sch Med, Ctr Expt Anim Sci, Mizuho Ku, Aichi 4678601, Japan

Agui, T
论文数: 0 引用数: 0
h-index: 0
机构:
Nagoya City Univ, Sch Med, Ctr Expt Anim Sci, Mizuho Ku, Aichi 4678601, Japan Nagoya City Univ, Sch Med, Ctr Expt Anim Sci, Mizuho Ku, Aichi 4678601, Japan
[9]
Mutations in the Pendred Syndrome (PDS/SLC26A) Gene: An Increasingly Complex Phenotypic Spectrum From Goiter to Thyroid Hypoplasia
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Kopp, Peter
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JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM,
2014, 99 (01)
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Kopp, Peter
论文数: 0 引用数: 0
h-index: 0
机构:
Northwestern Univ, Div Endocrinol Metab & Mol Med, Feinberg Sch Med, Chicago, IL 60611 USA Northwestern Univ, Div Endocrinol Metab & Mol Med, Feinberg Sch Med, Chicago, IL 60611 USA
[10]
Identification of PENDRIN (SLC26A4) Mutations in Patients With Congenital Hypothyroidism and "Apparent" Thyroid Dysgenesis
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Kuehnen, Peter
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Turan, Serap
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Froehler, Sebastian
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Gueran, Tuelay
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Abali, Saygin
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Biebermann, Heike
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Bereket, Abdullah
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Grueters, Annette
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Chen, Wei
;
Krude, Heiko
.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM,
2014, 99 (01)
:E169-E176

Kuehnen, Peter
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机构:
Charite, Inst Expt Pediat Endocrinol, D-13353 Berlin, Germany Charite, Inst Expt Pediat Endocrinol, D-13353 Berlin, Germany

Turan, Serap
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机构:
Marmara Univ Hosp, Dept Pediat Endocrinol & Diabet, TR-34722 Istanbul, Turkey Charite, Inst Expt Pediat Endocrinol, D-13353 Berlin, Germany

Froehler, Sebastian
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Max Delbruck Ctr Mol Med, D-13092 Berlin, Germany Charite, Inst Expt Pediat Endocrinol, D-13353 Berlin, Germany

Gueran, Tuelay
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机构:
Marmara Univ Hosp, Dept Pediat Endocrinol & Diabet, TR-34722 Istanbul, Turkey Charite, Inst Expt Pediat Endocrinol, D-13353 Berlin, Germany

Abali, Saygin
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Marmara Univ Hosp, Dept Pediat Endocrinol & Diabet, TR-34722 Istanbul, Turkey Charite, Inst Expt Pediat Endocrinol, D-13353 Berlin, Germany

Biebermann, Heike
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Charite, Inst Expt Pediat Endocrinol, D-13353 Berlin, Germany Charite, Inst Expt Pediat Endocrinol, D-13353 Berlin, Germany

Bereket, Abdullah
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Marmara Univ Hosp, Dept Pediat Endocrinol & Diabet, TR-34722 Istanbul, Turkey Charite, Inst Expt Pediat Endocrinol, D-13353 Berlin, Germany

Grueters, Annette
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Charite, Inst Expt Pediat Endocrinol, D-13353 Berlin, Germany Charite, Inst Expt Pediat Endocrinol, D-13353 Berlin, Germany

Chen, Wei
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机构:
Max Delbruck Ctr Mol Med, D-13092 Berlin, Germany Charite, Inst Expt Pediat Endocrinol, D-13353 Berlin, Germany

Krude, Heiko
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h-index: 0
机构:
Charite, Inst Expt Pediat Endocrinol, D-13353 Berlin, Germany Charite, Inst Expt Pediat Endocrinol, D-13353 Berlin, Germany