共 10 条
[1]
A founderRAB27Avariant causes Griscelli syndrome type 2 with phenotypic heterogeneity in Qatari families
[J].
Al-Sulaiman, Reem
;
Othman, Amna
;
El-Akouri, Karen
;
Fareed, Shehab
;
AlMulla, Hajer
;
Sukik, Aseel
;
Al-Mureikhi, Mariam
;
Shahbeck, Noora
;
Ali, Rehab
;
Al-Mesaifri, Fatma
;
Musa, Sara
;
Al-Mulla, Mariam
;
Ibrahim, Khalid
;
Mohamed, Khalid
;
Al-Nesef, Maryam Ali
;
Ehlayel, Mohammad
;
Ben-Omran, Tawfeg
.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A,
2020, 182 (11)
:2570-2580

Al-Sulaiman, Reem
论文数: 0 引用数: 0
h-index: 0
机构:
Hamad Med Corp, Dept Med Genet, Doha, Qatar
Hamad Med Corp, Dept Adult Hematol Oncol, Doha, Qatar Hamad Med Corp, Dept Med Genet, Doha, Qatar

Othman, Amna
论文数: 0 引用数: 0
h-index: 0
机构:
Hamad Med Corp, Dept Med Genet, Doha, Qatar
Sidra Med, Div Genet & Genom Med, Doha, Qatar Hamad Med Corp, Dept Med Genet, Doha, Qatar

El-Akouri, Karen
论文数: 0 引用数: 0
h-index: 0
机构:
Hamad Med Corp, Dept Med Genet, Doha, Qatar
Sidra Med, Div Genet & Genom Med, Doha, Qatar Hamad Med Corp, Dept Med Genet, Doha, Qatar

Fareed, Shehab
论文数: 0 引用数: 0
h-index: 0
机构:
Hamad Med Corp, Dept Adult Hematol Oncol, Doha, Qatar Hamad Med Corp, Dept Med Genet, Doha, Qatar

AlMulla, Hajer
论文数: 0 引用数: 0
h-index: 0
机构:
Hamad Med Corp, Dept Med Genet, Doha, Qatar
Hamad Med Corp, Dept Adult Hematol Oncol, Doha, Qatar Hamad Med Corp, Dept Med Genet, Doha, Qatar

Sukik, Aseel
论文数: 0 引用数: 0
h-index: 0
机构:
Hamad Med Corp, Dept Internal Med, Doha, Qatar Hamad Med Corp, Dept Med Genet, Doha, Qatar

Al-Mureikhi, Mariam
论文数: 0 引用数: 0
h-index: 0
机构:
Hamad Med Corp, Dept Med Genet, Doha, Qatar
Sidra Med, Div Genet & Genom Med, Doha, Qatar Hamad Med Corp, Dept Med Genet, Doha, Qatar

Shahbeck, Noora
论文数: 0 引用数: 0
h-index: 0
机构:
Hamad Med Corp, Dept Med Genet, Doha, Qatar
Sidra Med, Div Genet & Genom Med, Doha, Qatar Hamad Med Corp, Dept Med Genet, Doha, Qatar

Ali, Rehab
论文数: 0 引用数: 0
h-index: 0
机构:
Hamad Med Corp, Dept Med Genet, Doha, Qatar
Sidra Med, Div Genet & Genom Med, Doha, Qatar Hamad Med Corp, Dept Med Genet, Doha, Qatar

Al-Mesaifri, Fatma
论文数: 0 引用数: 0
h-index: 0
机构:
Hamad Med Corp, Dept Med Genet, Doha, Qatar
Sidra Med, Div Genet & Genom Med, Doha, Qatar Hamad Med Corp, Dept Med Genet, Doha, Qatar

Musa, Sara
论文数: 0 引用数: 0
h-index: 0
机构:
Hamad Med Corp, Dept Med Genet, Doha, Qatar Hamad Med Corp, Dept Med Genet, Doha, Qatar

Al-Mulla, Mariam
论文数: 0 引用数: 0
h-index: 0
机构:
Hamad Med Corp, Dept Med Genet, Doha, Qatar
Sidra Med, Div Genet & Genom Med, Doha, Qatar Hamad Med Corp, Dept Med Genet, Doha, Qatar

Ibrahim, Khalid
论文数: 0 引用数: 0
h-index: 0
机构:
Sidra Med, Div Pediat Neurol, Doha, Qatar Hamad Med Corp, Dept Med Genet, Doha, Qatar

Mohamed, Khalid
论文数: 0 引用数: 0
h-index: 0
机构:
Sidra Med, Div Pediat Neurol, Doha, Qatar Hamad Med Corp, Dept Med Genet, Doha, Qatar

Al-Nesef, Maryam Ali
论文数: 0 引用数: 0
h-index: 0
机构:
Hamad Med Corp, Dept Med, Doha, Qatar Hamad Med Corp, Dept Med Genet, Doha, Qatar

Ehlayel, Mohammad
论文数: 0 引用数: 0
h-index: 0
机构:
Hamad Med Corp, Dept Pediat, Doha, Qatar
Weill Cornell Med Coll, Doha, Qatar Hamad Med Corp, Dept Med Genet, Doha, Qatar

Ben-Omran, Tawfeg
论文数: 0 引用数: 0
h-index: 0
机构:
Hamad Med Corp, Dept Med Genet, Doha, Qatar
Sidra Med, Div Genet & Genom Med, Doha, Qatar
Weill Cornell Med Coll, Doha, Qatar Hamad Med Corp, Dept Med Genet, Doha, Qatar
[2]
Rab27 Effectors, Pleiotropic Regulators in Secretory Pathways
[J].
Fukuda, Mitsunori
.
TRAFFIC,
2013, 14 (09)
:949-963

Fukuda, Mitsunori
论文数: 0 引用数: 0
h-index: 0
机构:
Tohoku Univ, Lab Membrane Trafficking Mech, Dept Dev Biol & Neurosci, Grad Sch Life Sci,Aoba Ku, Sendai, Miyagi 9808578, Japan Tohoku Univ, Lab Membrane Trafficking Mech, Dept Dev Biol & Neurosci, Grad Sch Life Sci,Aoba Ku, Sendai, Miyagi 9808578, Japan
[3]
SYNDROME ASSOCIATING PARTIAL ALBINISM AND IMMUNODEFICIENCY
[J].
GRISCELLI, C
;
DURANDY, A
;
GUYGRAND, D
;
DAGUILLARD, F
;
HERZOG, C
;
PRUNIERAS, M
.
AMERICAN JOURNAL OF MEDICINE,
1978, 65 (04)
:691-702

GRISCELLI, C
论文数: 0 引用数: 0
h-index: 0

DURANDY, A
论文数: 0 引用数: 0
h-index: 0

GUYGRAND, D
论文数: 0 引用数: 0
h-index: 0

DAGUILLARD, F
论文数: 0 引用数: 0
h-index: 0

HERZOG, C
论文数: 0 引用数: 0
h-index: 0

PRUNIERAS, M
论文数: 0 引用数: 0
h-index: 0
[4]
HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis
[J].
Henter, Jan-Inge
;
Horne, AnnaCarin
;
Arico, Maurizio
;
Egeler, R. Maarten
;
Filipovich, Alexandra H.
;
Imashuku, Shinsaku
;
Ladisch, Stephan
;
McClain, Ken
;
Webb, David
;
Winiarski, Jacek
;
Janka, Gritta
.
PEDIATRIC BLOOD & CANCER,
2007, 48 (02)
:124-131

Henter, Jan-Inge
论文数: 0 引用数: 0
h-index: 0
机构: Karolinska Univ Hosp, Childhood Canc Res Unit, Karolinska Inst, Dept Woman & Child Hlth, SE-17176 Stockholm, Sweden

Horne, AnnaCarin
论文数: 0 引用数: 0
h-index: 0
机构: Karolinska Univ Hosp, Childhood Canc Res Unit, Karolinska Inst, Dept Woman & Child Hlth, SE-17176 Stockholm, Sweden

Arico, Maurizio
论文数: 0 引用数: 0
h-index: 0
机构: Karolinska Univ Hosp, Childhood Canc Res Unit, Karolinska Inst, Dept Woman & Child Hlth, SE-17176 Stockholm, Sweden

Egeler, R. Maarten
论文数: 0 引用数: 0
h-index: 0
机构: Karolinska Univ Hosp, Childhood Canc Res Unit, Karolinska Inst, Dept Woman & Child Hlth, SE-17176 Stockholm, Sweden

Filipovich, Alexandra H.
论文数: 0 引用数: 0
h-index: 0
机构: Karolinska Univ Hosp, Childhood Canc Res Unit, Karolinska Inst, Dept Woman & Child Hlth, SE-17176 Stockholm, Sweden

Imashuku, Shinsaku
论文数: 0 引用数: 0
h-index: 0
机构: Karolinska Univ Hosp, Childhood Canc Res Unit, Karolinska Inst, Dept Woman & Child Hlth, SE-17176 Stockholm, Sweden

Ladisch, Stephan
论文数: 0 引用数: 0
h-index: 0
机构: Karolinska Univ Hosp, Childhood Canc Res Unit, Karolinska Inst, Dept Woman & Child Hlth, SE-17176 Stockholm, Sweden

McClain, Ken
论文数: 0 引用数: 0
h-index: 0
机构: Karolinska Univ Hosp, Childhood Canc Res Unit, Karolinska Inst, Dept Woman & Child Hlth, SE-17176 Stockholm, Sweden

Webb, David
论文数: 0 引用数: 0
h-index: 0
机构: Karolinska Univ Hosp, Childhood Canc Res Unit, Karolinska Inst, Dept Woman & Child Hlth, SE-17176 Stockholm, Sweden

Winiarski, Jacek
论文数: 0 引用数: 0
h-index: 0
机构: Karolinska Univ Hosp, Childhood Canc Res Unit, Karolinska Inst, Dept Woman & Child Hlth, SE-17176 Stockholm, Sweden

Janka, Gritta
论文数: 0 引用数: 0
h-index: 0
机构: Karolinska Univ Hosp, Childhood Canc Res Unit, Karolinska Inst, Dept Woman & Child Hlth, SE-17176 Stockholm, Sweden
[5]
Infection- and malignancy-associated hemophagocytic syndromes - Secondary hemophagocytic lymphohistiocytosis
[J].
Janka, G
;
Imashuku, S
;
Elinder, G
;
Schneider, M
;
Henter, JI
.
HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA,
1998, 12 (02)
:435-+

Janka, G
论文数: 0 引用数: 0
h-index: 0
机构: Karolinska Hosp, Dept Pediat Hematol & Oncol, S-17176 Stockholm, Sweden

Imashuku, S
论文数: 0 引用数: 0
h-index: 0
机构: Karolinska Hosp, Dept Pediat Hematol & Oncol, S-17176 Stockholm, Sweden

Elinder, G
论文数: 0 引用数: 0
h-index: 0
机构: Karolinska Hosp, Dept Pediat Hematol & Oncol, S-17176 Stockholm, Sweden

Schneider, M
论文数: 0 引用数: 0
h-index: 0
机构: Karolinska Hosp, Dept Pediat Hematol & Oncol, S-17176 Stockholm, Sweden

Henter, JI
论文数: 0 引用数: 0
h-index: 0
机构:
Karolinska Hosp, Dept Pediat Hematol & Oncol, S-17176 Stockholm, Sweden Karolinska Hosp, Dept Pediat Hematol & Oncol, S-17176 Stockholm, Sweden
[6]
Further evidence for genotype-phenotype disparity in Griscelli syndrome
[J].
Lee, J. Y. W.
;
Eldeeb, M. S.
;
Hsu, C. -K.
;
Saito, R.
;
Abouzeid, S. A.
;
McGrath, J. A.
.
BRITISH JOURNAL OF DERMATOLOGY,
2017, 176 (04)
:1086-1089

Lee, J. Y. W.
论文数: 0 引用数: 0
h-index: 0
机构:
Kings Coll London, St Johns Inst Dermatol, London, England Kings Coll London, St Johns Inst Dermatol, London, England

Eldeeb, M. S.
论文数: 0 引用数: 0
h-index: 0
机构:
Alexandria Univ, Fac Med, Dept Dermatol Venereol & Androl, Alexandria, Egypt Kings Coll London, St Johns Inst Dermatol, London, England

Hsu, C. -K.
论文数: 0 引用数: 0
h-index: 0
机构:
Kings Coll London, St Johns Inst Dermatol, London, England
Natl Cheng Kung Univ, Dept Dermatol, Coll Med, Tainan, Taiwan
Natl Cheng Kung Univ, Inst Clin Med, Coll Med, Tainan, Taiwan Kings Coll London, St Johns Inst Dermatol, London, England

Saito, R.
论文数: 0 引用数: 0
h-index: 0
机构:
Kings Coll London, St Johns Inst Dermatol, London, England
Hiroshima Univ, Dept Dermatol, Hiroshima, Japan Kings Coll London, St Johns Inst Dermatol, London, England

Abouzeid, S. A.
论文数: 0 引用数: 0
h-index: 0
机构:
Alexandria Univ, Fac Med, Dept Dermatol Venereol & Androl, Alexandria, Egypt Kings Coll London, St Johns Inst Dermatol, London, England

McGrath, J. A.
论文数: 0 引用数: 0
h-index: 0
机构:
Kings Coll London, St Johns Inst Dermatol, London, England Kings Coll London, St Johns Inst Dermatol, London, England
[7]
Clinical Presentation of Griscelli Syndrome Type 2 and Spectrum of RAB27A Mutations
[J].
Meeths, Marie
;
Bryceson, Yenan T.
;
Rudd, Eva
;
Zheng, Chengyun
;
Wood, Stephanie M.
;
Ramme, Kim
;
Beutel, Karin
;
Hasle, Henrik
;
Heilmann, Carsten
;
Hultenby, Kjell
;
Ljunggren, Hans-Gustaf
;
Fadeel, Bengt
;
Nordenskjold, Magnus
;
Henter, Jan-Inge
.
PEDIATRIC BLOOD & CANCER,
2010, 54 (04)
:563-572

Meeths, Marie
论文数: 0 引用数: 0
h-index: 0
机构:
Karolinska Univ Hosp Solna, Karolinska Inst, Dept Woman & Child Hlth, Childhood Canc Res Unit, Stockholm, Sweden
Karolinska Univ Hosp Solna, Karolinska Inst, Ctr Mol Med, Dept Mol Med & Surg,Clin Genet Unit, Stockholm, Sweden Karolinska Univ Hosp Solna, Karolinska Inst, Dept Woman & Child Hlth, Childhood Canc Res Unit, Stockholm, Sweden

Bryceson, Yenan T.
论文数: 0 引用数: 0
h-index: 0
机构:
Karolinska Univ Hosp Huddinge, Karolinska Inst, Ctr Infect Med, Dept Med, Stockholm, Sweden Karolinska Univ Hosp Solna, Karolinska Inst, Dept Woman & Child Hlth, Childhood Canc Res Unit, Stockholm, Sweden

Rudd, Eva
论文数: 0 引用数: 0
h-index: 0
机构:
Karolinska Univ Hosp Solna, Karolinska Inst, Dept Woman & Child Hlth, Childhood Canc Res Unit, Stockholm, Sweden
Karolinska Univ Hosp Solna, Karolinska Inst, Ctr Mol Med, Dept Mol Med & Surg,Clin Genet Unit, Stockholm, Sweden Karolinska Univ Hosp Solna, Karolinska Inst, Dept Woman & Child Hlth, Childhood Canc Res Unit, Stockholm, Sweden

Zheng, Chengyun
论文数: 0 引用数: 0
h-index: 0
机构:
Karolinska Univ Hosp Solna, Karolinska Inst, Dept Woman & Child Hlth, Childhood Canc Res Unit, Stockholm, Sweden
Karolinska Univ Hosp Solna, Karolinska Inst, Ctr Mol Med, Dept Mol Med & Surg,Clin Genet Unit, Stockholm, Sweden Karolinska Univ Hosp Solna, Karolinska Inst, Dept Woman & Child Hlth, Childhood Canc Res Unit, Stockholm, Sweden

Wood, Stephanie M.
论文数: 0 引用数: 0
h-index: 0
机构:
Karolinska Univ Hosp Huddinge, Karolinska Inst, Ctr Infect Med, Dept Med, Stockholm, Sweden
Univ Queensland, Inst Mol Biosci, Brisbane, Qld, Australia Karolinska Univ Hosp Solna, Karolinska Inst, Dept Woman & Child Hlth, Childhood Canc Res Unit, Stockholm, Sweden

Ramme, Kim
论文数: 0 引用数: 0
h-index: 0
机构:
Karolinska Univ Hosp Solna, Karolinska Inst, Dept Woman & Child Hlth, Childhood Canc Res Unit, Stockholm, Sweden
Karolinska Univ Hosp Solna, Karolinska Inst, Ctr Mol Med, Dept Mol Med & Surg,Clin Genet Unit, Stockholm, Sweden Karolinska Univ Hosp Solna, Karolinska Inst, Dept Woman & Child Hlth, Childhood Canc Res Unit, Stockholm, Sweden

Beutel, Karin
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr Hamburg Eppendorf, Hamburg, Germany Karolinska Univ Hosp Solna, Karolinska Inst, Dept Woman & Child Hlth, Childhood Canc Res Unit, Stockholm, Sweden

Hasle, Henrik
论文数: 0 引用数: 0
h-index: 0
机构:
Aarhus Univ Hosp Skejby, Dept Paediat, Aarhus, Denmark Karolinska Univ Hosp Solna, Karolinska Inst, Dept Woman & Child Hlth, Childhood Canc Res Unit, Stockholm, Sweden

Heilmann, Carsten
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Copenhagen Hosp, Sect 4064, Paediat Clin 2, DK-2100 Copenhagen, Denmark Karolinska Univ Hosp Solna, Karolinska Inst, Dept Woman & Child Hlth, Childhood Canc Res Unit, Stockholm, Sweden

Hultenby, Kjell
论文数: 0 引用数: 0
h-index: 0
机构:
Karolinska Univ Hosp Huddinge, Karolinska Inst, Clin Res Ctr, Dept Lab Med, Stockholm, Sweden Karolinska Univ Hosp Solna, Karolinska Inst, Dept Woman & Child Hlth, Childhood Canc Res Unit, Stockholm, Sweden

论文数: 引用数:
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Fadeel, Bengt
论文数: 0 引用数: 0
h-index: 0
机构:
Karolinska Inst, Inst Environm Med, Div Mol Toxicol, S-10401 Stockholm, Sweden Karolinska Univ Hosp Solna, Karolinska Inst, Dept Woman & Child Hlth, Childhood Canc Res Unit, Stockholm, Sweden

Nordenskjold, Magnus
论文数: 0 引用数: 0
h-index: 0
机构:
Karolinska Univ Hosp Solna, Karolinska Inst, Ctr Mol Med, Dept Mol Med & Surg,Clin Genet Unit, Stockholm, Sweden Karolinska Univ Hosp Solna, Karolinska Inst, Dept Woman & Child Hlth, Childhood Canc Res Unit, Stockholm, Sweden

Henter, Jan-Inge
论文数: 0 引用数: 0
h-index: 0
机构:
Karolinska Univ Hosp Solna, Karolinska Inst, Dept Woman & Child Hlth, Childhood Canc Res Unit, Stockholm, Sweden Karolinska Univ Hosp Solna, Karolinska Inst, Dept Woman & Child Hlth, Childhood Canc Res Unit, Stockholm, Sweden
[8]
Functional characterization of two RAB27A missense mutations found in Griscelli syndrome type 2
[J].
Ohbayashi, Norihiko
;
Mamishi, Setareh
;
Ishibashi, Koutaro
;
Maruta, Yuto
;
Pourakbari, Babak
;
Tamizifar, Banafshe
;
Mohammadpour, Masoud
;
Fukuda, Mitsunori
;
Parvaneh, Nima
.
PIGMENT CELL & MELANOMA RESEARCH,
2010, 23 (03)
:365-374

Ohbayashi, Norihiko
论文数: 0 引用数: 0
h-index: 0
机构:
Tohoku Univ, Grad Sch Life Sci, Dept Dev Biol & Neurosci, Lab Membrane Trafficking Mech,Aoba Ku, Sendai, Miyagi 9808578, Japan Tohoku Univ, Grad Sch Life Sci, Dept Dev Biol & Neurosci, Lab Membrane Trafficking Mech,Aoba Ku, Sendai, Miyagi 9808578, Japan

Mamishi, Setareh
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tehran Med Sci, Infect Dis Res Ctr, Dept Pediat, Tehran, Iran
Univ Tehran Med Sci, Dept Dermatol, Razi Hosp, Tehran, Iran Tohoku Univ, Grad Sch Life Sci, Dept Dev Biol & Neurosci, Lab Membrane Trafficking Mech,Aoba Ku, Sendai, Miyagi 9808578, Japan

Ishibashi, Koutaro
论文数: 0 引用数: 0
h-index: 0
机构:
Tohoku Univ, Grad Sch Life Sci, Dept Dev Biol & Neurosci, Lab Membrane Trafficking Mech,Aoba Ku, Sendai, Miyagi 9808578, Japan Tohoku Univ, Grad Sch Life Sci, Dept Dev Biol & Neurosci, Lab Membrane Trafficking Mech,Aoba Ku, Sendai, Miyagi 9808578, Japan

Maruta, Yuto
论文数: 0 引用数: 0
h-index: 0
机构:
Tohoku Univ, Grad Sch Life Sci, Dept Dev Biol & Neurosci, Lab Membrane Trafficking Mech,Aoba Ku, Sendai, Miyagi 9808578, Japan Tohoku Univ, Grad Sch Life Sci, Dept Dev Biol & Neurosci, Lab Membrane Trafficking Mech,Aoba Ku, Sendai, Miyagi 9808578, Japan

Pourakbari, Babak
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tehran Med Sci, Infect Dis Res Ctr, Dept Pediat, Tehran, Iran Tohoku Univ, Grad Sch Life Sci, Dept Dev Biol & Neurosci, Lab Membrane Trafficking Mech,Aoba Ku, Sendai, Miyagi 9808578, Japan

Tamizifar, Banafshe
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tehran Med Sci, Childrens Med Ctr, Pediat Ctr Excellence, Tehran, Iran Tohoku Univ, Grad Sch Life Sci, Dept Dev Biol & Neurosci, Lab Membrane Trafficking Mech,Aoba Ku, Sendai, Miyagi 9808578, Japan

论文数: 引用数:
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Fukuda, Mitsunori
论文数: 0 引用数: 0
h-index: 0
机构:
Tohoku Univ, Grad Sch Life Sci, Dept Dev Biol & Neurosci, Lab Membrane Trafficking Mech,Aoba Ku, Sendai, Miyagi 9808578, Japan Tohoku Univ, Grad Sch Life Sci, Dept Dev Biol & Neurosci, Lab Membrane Trafficking Mech,Aoba Ku, Sendai, Miyagi 9808578, Japan

Parvaneh, Nima
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tehran Med Sci, Infect Dis Res Ctr, Dept Pediat, Tehran, Iran
Univ Tehran Med Sci, Childrens Med Ctr, Pediat Ctr Excellence, Tehran, Iran Tohoku Univ, Grad Sch Life Sci, Dept Dev Biol & Neurosci, Lab Membrane Trafficking Mech,Aoba Ku, Sendai, Miyagi 9808578, Japan
[9]
Griscelli Syndrome Type 2 Sine Albinism: Unraveling Differential RAB27A Effector Engagement
[J].
Ohishi, Yuta
;
Ammann, Sandra
;
Ziaee, Vahid
;
Strege, Katharina
;
Gross, Miriam
;
Amos, Carla Vazquez
;
Shahrooei, Mohammad
;
Ashournia, Parisa
;
Razaghian, Anahita
;
Griffiths, Gillian M.
;
Ehl, Stephan
;
Fukuda, Mitsunori
;
Parvaneh, Nima
.
FRONTIERS IN IMMUNOLOGY,
2020, 11

Ohishi, Yuta
论文数: 0 引用数: 0
h-index: 0
机构:
Tohoku Univ, Grad Sch Life Sci, Dept Integrat Life Sci, Lab Membrane Trafficking Mech, Sendai, Miyagi, Japan Tohoku Univ, Grad Sch Life Sci, Dept Integrat Life Sci, Lab Membrane Trafficking Mech, Sendai, Miyagi, Japan

Ammann, Sandra
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Freiburg, Inst Immunodeficiency, Ctr Chron Immunodeficiency, Fac Med,Med Ctr, Freiburg, Germany
Univ Cambridge, Cambridge Inst Med Res, Cambridge, England Tohoku Univ, Grad Sch Life Sci, Dept Integrat Life Sci, Lab Membrane Trafficking Mech, Sendai, Miyagi, Japan

论文数: 引用数:
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Strege, Katharina
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cambridge, Cambridge Inst Med Res, Cambridge, England Tohoku Univ, Grad Sch Life Sci, Dept Integrat Life Sci, Lab Membrane Trafficking Mech, Sendai, Miyagi, Japan

Gross, Miriam
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Freiburg, Inst Immunodeficiency, Ctr Chron Immunodeficiency, Fac Med,Med Ctr, Freiburg, Germany Tohoku Univ, Grad Sch Life Sci, Dept Integrat Life Sci, Lab Membrane Trafficking Mech, Sendai, Miyagi, Japan

Amos, Carla Vazquez
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cambridge, Cambridge Inst Med Res, Cambridge, England Tohoku Univ, Grad Sch Life Sci, Dept Integrat Life Sci, Lab Membrane Trafficking Mech, Sendai, Miyagi, Japan

Shahrooei, Mohammad
论文数: 0 引用数: 0
h-index: 0
机构:
Katholieke Univ Leuven, Lab Clin Bacteriol & Mycol, Dept Microbiol & Immunol, Leuven, Belgium Tohoku Univ, Grad Sch Life Sci, Dept Integrat Life Sci, Lab Membrane Trafficking Mech, Sendai, Miyagi, Japan

Ashournia, Parisa
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tehran Med Sci, Div Allergy & Clin Immunol, Dept Pediat, Tehran, Iran Tohoku Univ, Grad Sch Life Sci, Dept Integrat Life Sci, Lab Membrane Trafficking Mech, Sendai, Miyagi, Japan

Razaghian, Anahita
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tehran Med Sci, Div Allergy & Clin Immunol, Dept Pediat, Tehran, Iran Tohoku Univ, Grad Sch Life Sci, Dept Integrat Life Sci, Lab Membrane Trafficking Mech, Sendai, Miyagi, Japan

Griffiths, Gillian M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cambridge, Cambridge Inst Med Res, Cambridge, England Tohoku Univ, Grad Sch Life Sci, Dept Integrat Life Sci, Lab Membrane Trafficking Mech, Sendai, Miyagi, Japan

Ehl, Stephan
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Freiburg, Inst Immunodeficiency, Ctr Chron Immunodeficiency, Fac Med,Med Ctr, Freiburg, Germany Tohoku Univ, Grad Sch Life Sci, Dept Integrat Life Sci, Lab Membrane Trafficking Mech, Sendai, Miyagi, Japan

Fukuda, Mitsunori
论文数: 0 引用数: 0
h-index: 0
机构:
Tohoku Univ, Grad Sch Life Sci, Dept Integrat Life Sci, Lab Membrane Trafficking Mech, Sendai, Miyagi, Japan Tohoku Univ, Grad Sch Life Sci, Dept Integrat Life Sci, Lab Membrane Trafficking Mech, Sendai, Miyagi, Japan

Parvaneh, Nima
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tehran Med Sci, Div Allergy & Clin Immunol, Dept Pediat, Tehran, Iran
Univ Tehran Med Sci, Res Ctr Immunodeficiencies, Tehran, Iran Tohoku Univ, Grad Sch Life Sci, Dept Integrat Life Sci, Lab Membrane Trafficking Mech, Sendai, Miyagi, Japan
[10]
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
[J].
Richards, Sue
;
Aziz, Nazneen
;
Bale, Sherri
;
Bick, David
;
Das, Soma
;
Gastier-Foster, Julie
;
Grody, Wayne W.
;
Hegde, Madhuri
;
Lyon, Elaine
;
Spector, Elaine
;
Voelkerding, Karl
;
Rehm, Heidi L.
.
GENETICS IN MEDICINE,
2015, 17 (05)
:405-424

Richards, Sue
论文数: 0 引用数: 0
h-index: 0
机构:
Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA

Aziz, Nazneen
论文数: 0 引用数: 0
h-index: 0
机构:
Coll Amer Pathologists, Chicago, IL USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA

Bale, Sherri
论文数: 0 引用数: 0
h-index: 0
机构:
GeneDx, Gaithersburg, MD USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA

Bick, David
论文数: 0 引用数: 0
h-index: 0
机构:
Med Coll Wisconsin, Dept Pediat, Genet Sect, Milwaukee, WI 53226 USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA

Das, Soma
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Chicago, Clin Mol Genet Lab, Dept Human Genet, Chicago, IL 60637 USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA

Gastier-Foster, Julie
论文数: 0 引用数: 0
h-index: 0
机构:
Nationwide Childrens Hosp, Cytogenet Mol Genet Lab, Columbus, OH USA
Ohio State Univ, Coll Med, Dept Pathol, Columbus, OH 43210 USA
Ohio State Univ, Coll Med, Dept Pediat, Columbus, OH 43210 USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA

Grody, Wayne W.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, Sch Med, Dept Pathol & Lab Med, Los Angeles, CA 90024 USA
Univ Calif Los Angeles, Sch Med, Dept Pediat, Los Angeles, CA 90024 USA
Univ Calif Los Angeles, Sch Med, Dept Human Genet, Los Angeles, CA USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA

Hegde, Madhuri
论文数: 0 引用数: 0
h-index: 0
机构:
Emory Univ, Emory Genet Lab, Dept Human Genet, Atlanta, GA 30322 USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA

Lyon, Elaine
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Utah, Dept Pathol, ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA

Spector, Elaine
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Colorado, Anschutz Med Sch, Childrens Hosp Colorado, Dept Pediat,Mol Genet Lab, Denver, CO 80202 USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA

Voelkerding, Karl
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Utah, Dept Pathol, ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA

Rehm, Heidi L.
论文数: 0 引用数: 0
h-index: 0
机构:
Brigham & Womens Hosp, Partners Lab Mol Med, Boston, MA 02115 USA
Brigham & Womens Hosp, Dept Pathol, Boston, MA 02115 USA
Harvard Univ, Sch Med, Boston, MA USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA