共 125 条
[1]
Why Newborn Screening for Severe Combined Immunodeficiency Is Essential: A Case Report
[J].
Adeli, Mehdi M.
;
Buckley, Rebecca H.
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PEDIATRICS,
2010, 126 (02)
:E465-E469

Adeli, Mehdi M.
论文数: 0 引用数: 0
h-index: 0
机构: Duke Univ, Med Ctr, Dept Pediat, Div Pediat Allergy & Immunol, Durham, NC 27710 USA

Buckley, Rebecca H.
论文数: 0 引用数: 0
h-index: 0
机构:
Duke Univ, Med Ctr, Dept Pediat, Div Pediat Allergy & Immunol, Durham, NC 27710 USA Duke Univ, Med Ctr, Dept Pediat, Div Pediat Allergy & Immunol, Durham, NC 27710 USA
[2]
Ancestral founder mutation of the nude (FOXN1) gene in congenital severe combined immunodeficiency associated with alopecia in southern Italy population
[J].
Adriani, M
;
Martinez-Mir, A
;
Fusco, F
;
Busiello, R
;
Frank, J
;
Telese, S
;
Matrecano, E
;
Ursini, MV
;
Christiano, AM
;
Pignata, C
.
ANNALS OF HUMAN GENETICS,
2004, 68
:265-268

Adriani, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ Naples Federico II, Dept Pediat, Unit Immunol, I-80131 Naples, Italy

Martinez-Mir, A
论文数: 0 引用数: 0
h-index: 0
机构: Univ Naples Federico II, Dept Pediat, Unit Immunol, I-80131 Naples, Italy

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机构:

Busiello, R
论文数: 0 引用数: 0
h-index: 0
机构: Univ Naples Federico II, Dept Pediat, Unit Immunol, I-80131 Naples, Italy

Frank, J
论文数: 0 引用数: 0
h-index: 0
机构: Univ Naples Federico II, Dept Pediat, Unit Immunol, I-80131 Naples, Italy

Telese, S
论文数: 0 引用数: 0
h-index: 0
机构: Univ Naples Federico II, Dept Pediat, Unit Immunol, I-80131 Naples, Italy

Matrecano, E
论文数: 0 引用数: 0
h-index: 0
机构: Univ Naples Federico II, Dept Pediat, Unit Immunol, I-80131 Naples, Italy

Ursini, MV
论文数: 0 引用数: 0
h-index: 0
机构: Univ Naples Federico II, Dept Pediat, Unit Immunol, I-80131 Naples, Italy

Christiano, AM
论文数: 0 引用数: 0
h-index: 0
机构: Univ Naples Federico II, Dept Pediat, Unit Immunol, I-80131 Naples, Italy

论文数: 引用数:
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[3]
Gene Therapy for Immunodeficiency Due to Adenosine Deaminase Deficiency.
[J].
Aiuti, Alessandro
;
Cattaneo, Federica
;
Galimberti, Stefania
;
Benninghoff, Ulrike
;
Cassani, Barbara
;
Callegaro, Luciano
;
Scaramuzza, Samantha
;
Andolfi, Grazia
;
Mirolo, Massimiliano
;
Brigida, Immacolata
;
Tabucchi, Antonella
;
Carlucci, Filippo
;
Eibl, Martha
;
Aker, Memet
;
Slavin, Shimon
;
Al-Mousa, Hamoud
;
Al Ghonaium, Abdulaziz
;
Ferster, Alina
;
Duppenthaler, Andrea
;
Notarangelo, Luigi
;
Wintergerst, Uwe
;
Buckley, Rebecca H.
;
Bregni, Marco
;
Marktel, Sarah
;
Valsecchi, Maria Grazia
;
Rossi, Paolo
;
Ciceri, Fabio
;
Miniero, Roberto
;
Bordignon, Claudio
;
Roncarolo, Maria-Grazia
.
NEW ENGLAND JOURNAL OF MEDICINE,
2009, 360 (05)
:447-458

Aiuti, Alessandro
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Milano Bicocca, HSR TIGET, I-20132 Milan, Italy
Univ Roma Tor Vergata, Rome, Italy Univ Milano Bicocca, HSR TIGET, I-20132 Milan, Italy

Cattaneo, Federica
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Milano Bicocca, HSR TIGET, I-20132 Milan, Italy
Ist Sci San Raffaele, I-20132 Milan, Italy Univ Milano Bicocca, HSR TIGET, I-20132 Milan, Italy

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Benninghoff, Ulrike
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Milano Bicocca, HSR TIGET, I-20132 Milan, Italy Univ Milano Bicocca, HSR TIGET, I-20132 Milan, Italy

Cassani, Barbara
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Milano Bicocca, HSR TIGET, I-20132 Milan, Italy Univ Milano Bicocca, HSR TIGET, I-20132 Milan, Italy

Callegaro, Luciano
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Milano Bicocca, HSR TIGET, I-20132 Milan, Italy Univ Milano Bicocca, HSR TIGET, I-20132 Milan, Italy

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Andolfi, Grazia
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Milano Bicocca, HSR TIGET, I-20132 Milan, Italy Univ Milano Bicocca, HSR TIGET, I-20132 Milan, Italy

Mirolo, Massimiliano
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Milano Bicocca, HSR TIGET, I-20132 Milan, Italy Univ Milano Bicocca, HSR TIGET, I-20132 Milan, Italy

Brigida, Immacolata
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Milano Bicocca, HSR TIGET, I-20132 Milan, Italy Univ Milano Bicocca, HSR TIGET, I-20132 Milan, Italy

Tabucchi, Antonella
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Siena, I-53100 Siena, Italy Univ Milano Bicocca, HSR TIGET, I-20132 Milan, Italy

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Eibl, Martha
论文数: 0 引用数: 0
h-index: 0
机构:
Immunol Tagesklin, Vienna, Austria Univ Milano Bicocca, HSR TIGET, I-20132 Milan, Italy

Aker, Memet
论文数: 0 引用数: 0
h-index: 0
机构:
Hadassah Univ Hosp, IL-91120 Jerusalem, Israel Univ Milano Bicocca, HSR TIGET, I-20132 Milan, Italy

Slavin, Shimon
论文数: 0 引用数: 0
h-index: 0
机构:
Hadassah Univ Hosp, IL-91120 Jerusalem, Israel Univ Milano Bicocca, HSR TIGET, I-20132 Milan, Italy

Al-Mousa, Hamoud
论文数: 0 引用数: 0
h-index: 0
机构:
King Faisal Specialist Hosp & Res Ctr, Riyadh 11211, Saudi Arabia Univ Milano Bicocca, HSR TIGET, I-20132 Milan, Italy

Al Ghonaium, Abdulaziz
论文数: 0 引用数: 0
h-index: 0
机构:
King Faisal Specialist Hosp & Res Ctr, Riyadh 11211, Saudi Arabia Univ Milano Bicocca, HSR TIGET, I-20132 Milan, Italy

Ferster, Alina
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Libre Bruxelles, Hop Univ Enfants Reine Fabiola, Brussels, Belgium Univ Milano Bicocca, HSR TIGET, I-20132 Milan, Italy

Duppenthaler, Andrea
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Childrens Hosp, Bern, Switzerland Univ Milano Bicocca, HSR TIGET, I-20132 Milan, Italy

Notarangelo, Luigi
论文数: 0 引用数: 0
h-index: 0
机构:
Harvard Univ, Sch Med, Childrens Hosp, Boston, MA 02115 USA Univ Milano Bicocca, HSR TIGET, I-20132 Milan, Italy

Wintergerst, Uwe
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Kinderklin Munchen, Munich, Germany Univ Milano Bicocca, HSR TIGET, I-20132 Milan, Italy

Buckley, Rebecca H.
论文数: 0 引用数: 0
h-index: 0
机构:
Duke Univ, Med Ctr, Durham, NC USA Univ Milano Bicocca, HSR TIGET, I-20132 Milan, Italy

Bregni, Marco
论文数: 0 引用数: 0
h-index: 0
机构:
Osped San Giuseppe, Milan, Italy Univ Milano Bicocca, HSR TIGET, I-20132 Milan, Italy

Marktel, Sarah
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Milano Bicocca, HSR TIGET, I-20132 Milan, Italy Univ Milano Bicocca, HSR TIGET, I-20132 Milan, Italy

Valsecchi, Maria Grazia
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Milano Bicocca, Milan, Italy Univ Milano Bicocca, HSR TIGET, I-20132 Milan, Italy

Rossi, Paolo
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Roma Tor Vergata, Rome, Italy
Childrens Hosp Bambino Gesu, Rome, Italy Univ Milano Bicocca, HSR TIGET, I-20132 Milan, Italy

Ciceri, Fabio
论文数: 0 引用数: 0
h-index: 0
机构: Univ Milano Bicocca, HSR TIGET, I-20132 Milan, Italy

Miniero, Roberto
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Turin, Turin, Italy Univ Milano Bicocca, HSR TIGET, I-20132 Milan, Italy

Bordignon, Claudio
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Vita Salute San Raffaele, Milan, Italy
MolMed, Milan, Italy Univ Milano Bicocca, HSR TIGET, I-20132 Milan, Italy

Roncarolo, Maria-Grazia
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Milano Bicocca, HSR TIGET, I-20132 Milan, Italy
Univ Vita Salute San Raffaele, Milan, Italy Univ Milano Bicocca, HSR TIGET, I-20132 Milan, Italy
[4]
Teratogenicity Associated With Pre-Existing and Gestational Diabetes
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Allen, Victoria M.
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Armson, B. Anthony
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Wilson, R. Douglas
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Blight, Claire
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Gagnon, Alain
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Johnson, Jo-Ann
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Langlois, Sylvie
;
Summers, Anne
;
Wyatt, Philip
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Farine, Dan
;
Crane, Joan
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Delisle, Marie-France
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Keenan-Lindsay, Lisa
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Morin, Valerie
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Schneider, Carol Ellison
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Van Aerde, John
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JOURNAL OF OBSTETRICS AND GYNAECOLOGY CANADA,
2007, 29 (11)
:927-934

Allen, Victoria M.
论文数: 0 引用数: 0
h-index: 0
机构: Halifax, NS

Armson, B. Anthony
论文数: 0 引用数: 0
h-index: 0
机构: Halifax, NS

Wilson, R. Douglas
论文数: 0 引用数: 0
h-index: 0
机构: Halifax, NS

Blight, Claire
论文数: 0 引用数: 0
h-index: 0
机构: Halifax, NS

Gagnon, Alain
论文数: 0 引用数: 0
h-index: 0
机构: Halifax, NS

Johnson, Jo-Ann
论文数: 0 引用数: 0
h-index: 0
机构: Halifax, NS

Langlois, Sylvie
论文数: 0 引用数: 0
h-index: 0
机构: Halifax, NS

Summers, Anne
论文数: 0 引用数: 0
h-index: 0
机构: Halifax, NS

Wyatt, Philip
论文数: 0 引用数: 0
h-index: 0
机构: Halifax, NS

Farine, Dan
论文数: 0 引用数: 0
h-index: 0
机构: Halifax, NS

Crane, Joan
论文数: 0 引用数: 0
h-index: 0
机构: Halifax, NS

Delisle, Marie-France
论文数: 0 引用数: 0
h-index: 0
机构: Halifax, NS

Keenan-Lindsay, Lisa
论文数: 0 引用数: 0
h-index: 0
机构: Halifax, NS

Morin, Valerie
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h-index: 0
机构: Halifax, NS

Schneider, Carol Ellison
论文数: 0 引用数: 0
h-index: 0
机构: Halifax, NS

Van Aerde, John
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h-index: 0
机构: Halifax, NS
[5]
FOXN1 homozygous mutation associated with anencephaly and severe neural tube defect in human athymic Nude/SCID fetus
[J].
Amorosi, S.
;
D'Armiento, M.
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Calcagno, G.
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Russo, I.
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Adriani, M.
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Christiano, A. M.
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Weiner, L.
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Brissette, J. L.
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Pignata, C.
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CLINICAL GENETICS,
2008, 73 (04)
:380-384

Amorosi, S.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Naples Federico 2, Dept Pediat, Immunol Unit, I-80131 Naples, Italy Univ Naples Federico 2, Dept Pediat, Immunol Unit, I-80131 Naples, Italy

D'Armiento, M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Naples Federico 2, Dept Biomorphol Sci, I-80131 Naples, Italy Univ Naples Federico 2, Dept Pediat, Immunol Unit, I-80131 Naples, Italy

Calcagno, G.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Naples Federico 2, Dept Biochem & CEINGE Scarl, I-80131 Naples, Italy Univ Naples Federico 2, Dept Pediat, Immunol Unit, I-80131 Naples, Italy

Russo, I.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Naples Federico 2, Dept Pediat, Immunol Unit, I-80131 Naples, Italy Univ Naples Federico 2, Dept Pediat, Immunol Unit, I-80131 Naples, Italy

Adriani, M.
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Genet & Mol Biol Branch, Bethesda, MD 20892 USA Univ Naples Federico 2, Dept Pediat, Immunol Unit, I-80131 Naples, Italy

Christiano, A. M.
论文数: 0 引用数: 0
h-index: 0
机构:
Columbia Univ, Dept Dermatol, New York, NY 10027 USA
Columbia Univ, Dept Genet & Dev, New York, NY USA Univ Naples Federico 2, Dept Pediat, Immunol Unit, I-80131 Naples, Italy

Weiner, L.
论文数: 0 引用数: 0
h-index: 0
机构:
Massachusetts Gen Hosp, Harvard Med Sch, Cutaneous Biol Res Ctr, Dept Dermatol, Charlestown, MA USA Univ Naples Federico 2, Dept Pediat, Immunol Unit, I-80131 Naples, Italy

Brissette, J. L.
论文数: 0 引用数: 0
h-index: 0
机构:
Massachusetts Gen Hosp, Harvard Med Sch, Cutaneous Biol Res Ctr, Dept Dermatol, Charlestown, MA USA Univ Naples Federico 2, Dept Pediat, Immunol Unit, I-80131 Naples, Italy

Pignata, C.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Naples Federico 2, Dept Pediat, Immunol Unit, I-80131 Naples, Italy Univ Naples Federico 2, Dept Pediat, Immunol Unit, I-80131 Naples, Italy
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The structure, regulation, and function of ZAP-70
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Au-Yeung, Byron B.
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Deindl, Sebastian
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Hsu, Lih-Yun
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Palacios, Emil H.
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Levin, Susan E.
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Kuriyan, John
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Weiss, Arthur
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IMMUNOLOGICAL REVIEWS,
2009, 228
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Au-Yeung, Byron B.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Francisco, Howard Hughes Med Inst, Rosalind Russell Med Res Ctr Arthrit, Dept Med, San Francisco, CA 94143 USA Univ Calif San Francisco, Howard Hughes Med Inst, Rosalind Russell Med Res Ctr Arthrit, Dept Med, San Francisco, CA 94143 USA

Deindl, Sebastian
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Berkeley, Howard Hughes Med Inst, Dept Mol & Cell Biol, Berkeley, CA 94720 USA
Univ Calif Berkeley, Howard Hughes Med Inst, Dept Chem, Berkeley, CA 94720 USA Univ Calif San Francisco, Howard Hughes Med Inst, Rosalind Russell Med Res Ctr Arthrit, Dept Med, San Francisco, CA 94143 USA

Hsu, Lih-Yun
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Francisco, Howard Hughes Med Inst, Rosalind Russell Med Res Ctr Arthrit, Dept Med, San Francisco, CA 94143 USA Univ Calif San Francisco, Howard Hughes Med Inst, Rosalind Russell Med Res Ctr Arthrit, Dept Med, San Francisco, CA 94143 USA

Palacios, Emil H.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Francisco, Calif Inst Quantitat Biomed Res, Sandler Ctr Basic Res Parasit Dis, San Francisco, CA 94143 USA Univ Calif San Francisco, Howard Hughes Med Inst, Rosalind Russell Med Res Ctr Arthrit, Dept Med, San Francisco, CA 94143 USA

Levin, Susan E.
论文数: 0 引用数: 0
h-index: 0
机构:
Williams Coll, Dept Biol, Williamstown, MA 01267 USA Univ Calif San Francisco, Howard Hughes Med Inst, Rosalind Russell Med Res Ctr Arthrit, Dept Med, San Francisco, CA 94143 USA

Kuriyan, John
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Berkeley, Howard Hughes Med Inst, Dept Mol & Cell Biol, Berkeley, CA 94720 USA
Univ Calif Berkeley, Howard Hughes Med Inst, Dept Chem, Berkeley, CA 94720 USA
Univ Calif Berkeley, Lawrence Berkeley Lab, Phys Biosci Div, Berkeley, CA 94720 USA Univ Calif San Francisco, Howard Hughes Med Inst, Rosalind Russell Med Res Ctr Arthrit, Dept Med, San Francisco, CA 94143 USA

Weiss, Arthur
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Francisco, Howard Hughes Med Inst, Rosalind Russell Med Res Ctr Arthrit, Dept Med, San Francisco, CA 94143 USA Univ Calif San Francisco, Howard Hughes Med Inst, Rosalind Russell Med Res Ctr Arthrit, Dept Med, San Francisco, CA 94143 USA
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Purine nucleoside phosphorylase deficiency with fatal course in two sisters
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Aytekin, Caner
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EUROPEAN JOURNAL OF PEDIATRICS,
2010, 169 (03)
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Aytekin, Caner
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h-index: 0
机构:
Dr Sami Ulus Childrens Hlth & Dis Training & Res, TR-06080 Ankara, Turkey Dr Sami Ulus Childrens Hlth & Dis Training & Res, TR-06080 Ankara, Turkey

Dogu, Figen
论文数: 0 引用数: 0
h-index: 0
机构:
Ankara Univ, Sch Med, Dept Pediat Immunol & Allergy, TR-06100 Ankara, Turkey Dr Sami Ulus Childrens Hlth & Dis Training & Res, TR-06080 Ankara, Turkey

Tanir, Gonul
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h-index: 0
机构:
Dr Sami Ulus Childrens Hlth & Dis Training & Res, TR-06080 Ankara, Turkey Dr Sami Ulus Childrens Hlth & Dis Training & Res, TR-06080 Ankara, Turkey

Guloglu, Deniz
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h-index: 0
机构:
Ankara Univ, Sch Med, Dept Pediat Immunol & Allergy, TR-06100 Ankara, Turkey Dr Sami Ulus Childrens Hlth & Dis Training & Res, TR-06080 Ankara, Turkey

Santisteban, Ines
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h-index: 0
机构:
Duke Univ, Med Ctr, Dept Med, Durham, NC 27710 USA Dr Sami Ulus Childrens Hlth & Dis Training & Res, TR-06080 Ankara, Turkey

Hershfield, Michael S.
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h-index: 0
机构:
Duke Univ, Med Ctr, Dept Med, Durham, NC 27710 USA Dr Sami Ulus Childrens Hlth & Dis Training & Res, TR-06080 Ankara, Turkey

Ikinciogullari, Aydan
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h-index: 0
机构:
Ankara Univ, Sch Med, Dept Pediat Immunol & Allergy, TR-06100 Ankara, Turkey Dr Sami Ulus Childrens Hlth & Dis Training & Res, TR-06080 Ankara, Turkey
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Implementing Routine Testing for Severe Combined Immunodeficiency within Wisconsin's Newborn Screening Program
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Baker, Mei Wang
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PUBLIC HEALTH REPORTS,
2010, 125
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Baker, Mei Wang
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Wisconsin, Sch Med & Publ Hlth, Wisconsin State Lab Hyg, Madison, WI 53706 USA
Univ Wisconsin, Sch Med & Publ Hlth, Dept Pediat, Madison, WI 53706 USA Univ Wisconsin, Sch Med & Publ Hlth, Wisconsin State Lab Hyg, Madison, WI 53706 USA

Laessig, Ronald H.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Wisconsin, Sch Med & Publ Hlth, Wisconsin State Lab Hyg, Madison, WI 53706 USA
Univ Wisconsin, Sch Med & Publ Hlth, Dept Populat Hlth Sci, Madison, WI 53706 USA
Univ Wisconsin, Sch Med & Publ Hlth, Dept Pathol, Madison, WI 53706 USA Univ Wisconsin, Sch Med & Publ Hlth, Wisconsin State Lab Hyg, Madison, WI 53706 USA

Katcher, Murray L.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Wisconsin, Sch Med & Publ Hlth, Dept Pediat, Madison, WI 53706 USA
Univ Wisconsin, Sch Med & Publ Hlth, Dept Populat Hlth Sci, Madison, WI 53706 USA
Wisconsin Dept Hlth Serv, Madison, WI USA Univ Wisconsin, Sch Med & Publ Hlth, Wisconsin State Lab Hyg, Madison, WI 53706 USA

Routes, John M.
论文数: 0 引用数: 0
h-index: 0
机构:
Med Coll Wisconsin, Dept Pediat, Childrens Res Inst, Div Allergy Clin Immunol, Milwaukee, WI 53226 USA Univ Wisconsin, Sch Med & Publ Hlth, Wisconsin State Lab Hyg, Madison, WI 53706 USA

Grossman, William J.
论文数: 0 引用数: 0
h-index: 0
机构:
Med Coll Wisconsin, Dept Pediat, Childrens Res Inst, Div Allergy Clin Immunol, Milwaukee, WI 53226 USA Univ Wisconsin, Sch Med & Publ Hlth, Wisconsin State Lab Hyg, Madison, WI 53706 USA

Verbsky, James
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h-index: 0
机构:
Med Coll Wisconsin, Dept Pediat, Childrens Res Inst, Div Allergy Clin Immunol, Milwaukee, WI 53226 USA Univ Wisconsin, Sch Med & Publ Hlth, Wisconsin State Lab Hyg, Madison, WI 53706 USA

Kurtycz, Daniel F.
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h-index: 0
机构:
Univ Wisconsin, Sch Med & Publ Hlth, Wisconsin State Lab Hyg, Madison, WI 53706 USA
Univ Wisconsin, Sch Med & Publ Hlth, Dept Pathol, Madison, WI 53706 USA Univ Wisconsin, Sch Med & Publ Hlth, Wisconsin State Lab Hyg, Madison, WI 53706 USA

Brokopp, Charles D.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Wisconsin, Sch Med & Publ Hlth, Wisconsin State Lab Hyg, Madison, WI 53706 USA
Univ Wisconsin, Sch Med & Publ Hlth, Dept Populat Hlth Sci, Madison, WI 53706 USA Univ Wisconsin, Sch Med & Publ Hlth, Wisconsin State Lab Hyg, Madison, WI 53706 USA