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Identification of the Third Case of PSEN1 Tyr389His Variant in Early-Onset Alzheimer's Disease in Korea
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Shim, Kyu Hwan
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Kang, Sangjoon
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Kang, Min Ju
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INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES,
2022, 23 (24)

Shim, Kyu Hwan
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h-index: 0
机构:
Gachon Univ, Dept Bionano Technol, Seongnam 13120, South Korea Gachon Univ, Dept Bionano Technol, Seongnam 13120, South Korea

Kang, Sangjoon
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h-index: 0
机构:
Vet Hlth Serv Med Ctr, Vet Med Res Inst, Dept Neurol, Seoul 05368, South Korea Gachon Univ, Dept Bionano Technol, Seongnam 13120, South Korea

An, Seong Soo A.
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h-index: 0
机构:
Gachon Univ, Dept Bionano Technol, Seongnam 13120, South Korea Gachon Univ, Dept Bionano Technol, Seongnam 13120, South Korea

Kang, Min Ju
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h-index: 0
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Vet Hlth Serv Med Ctr, Vet Med Res Inst, Dept Neurol, Seoul 05368, South Korea Gachon Univ, Dept Bionano Technol, Seongnam 13120, South Korea
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Exome sequencing identifies a novel homozygous variant in NDRG4 in a family with infantile myofibromatosis
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Linhares, Natalia D.
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EUROPEAN JOURNAL OF MEDICAL GENETICS,
2014, 57 (11-12)
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Linhares, Natalia D.
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h-index: 0
机构:
Univ Fed Minas Gerais, Fac Med, Lab Genom Clin, BR-30130100 Belo Horizonte, MG, Brazil Univ Fed Minas Gerais, Fac Med, Lab Genom Clin, BR-30130100 Belo Horizonte, MG, Brazil

Freire, Maira C. M.
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h-index: 0
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Univ Fed Minas Gerais, Inst Ciencias Biol, Dept Bioquim & Immunol, BR-30130100 Belo Horizonte, MG, Brazil Univ Fed Minas Gerais, Fac Med, Lab Genom Clin, BR-30130100 Belo Horizonte, MG, Brazil

Cardenas, Raony G. C. C. L.
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Univ Fed Minas Gerais, Fac Med, Lab Genom Clin, BR-30130100 Belo Horizonte, MG, Brazil Univ Fed Minas Gerais, Fac Med, Lab Genom Clin, BR-30130100 Belo Horizonte, MG, Brazil

Pena, Heloisa B.
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Nucleo Genet Med, Lab Gene, Belo Horizonte, MG, Brazil Univ Fed Minas Gerais, Fac Med, Lab Genom Clin, BR-30130100 Belo Horizonte, MG, Brazil

Bahia, Magda
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h-index: 0
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Hosp Clin UFMG, Div Gastroenterol Pediat, Belo Horizonte, MG, Brazil Univ Fed Minas Gerais, Fac Med, Lab Genom Clin, BR-30130100 Belo Horizonte, MG, Brazil

Pena, Sergio D. J.
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h-index: 0
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Univ Fed Minas Gerais, Fac Med, Lab Genom Clin, BR-30130100 Belo Horizonte, MG, Brazil
Univ Fed Minas Gerais, Inst Ciencias Biol, Dept Bioquim & Immunol, BR-30130100 Belo Horizonte, MG, Brazil
Nucleo Genet Med, Lab Gene, Belo Horizonte, MG, Brazil Univ Fed Minas Gerais, Fac Med, Lab Genom Clin, BR-30130100 Belo Horizonte, MG, Brazil
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A novel melanocortin-4 receptor gene mutation in a female patient with severe childhood obesity
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Roth, Christian L.
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ENDOCRINE,
2009, 36 (01)
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Roth, Christian L.
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Seattle Childrens Hosp, Res Inst, Div Endocrinol, Seattle, WA 98101 USA Seattle Childrens Hosp, Res Inst, Div Endocrinol, Seattle, WA 98101 USA

Ludwig, Michael
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h-index: 0
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Univ Bonn, Inst Clin Biochem & Pharmacol, D-5300 Bonn, Germany Seattle Childrens Hosp, Res Inst, Div Endocrinol, Seattle, WA 98101 USA

Woelfle, Joachim
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h-index: 0
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Univ Bonn, Childrens Hosp, D-5300 Bonn, Germany Seattle Childrens Hosp, Res Inst, Div Endocrinol, Seattle, WA 98101 USA

Fan, Zhen-Chuan
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h-index: 0
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Auburn Univ, Coll Vet Med, Dept Anat Physiol & Pharmacol, Auburn, AL 36849 USA Seattle Childrens Hosp, Res Inst, Div Endocrinol, Seattle, WA 98101 USA

Brumm, Harald
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h-index: 0
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Charite Campus Virchow, Inst Expt Pediat Endocrinol, Berlin, Germany Seattle Childrens Hosp, Res Inst, Div Endocrinol, Seattle, WA 98101 USA

Biebermann, Heike
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h-index: 0
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Charite Campus Virchow, Inst Expt Pediat Endocrinol, Berlin, Germany Seattle Childrens Hosp, Res Inst, Div Endocrinol, Seattle, WA 98101 USA

Tao, Ya-Xiong
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Auburn Univ, Coll Vet Med, Dept Anat Physiol & Pharmacol, Auburn, AL 36849 USA Seattle Childrens Hosp, Res Inst, Div Endocrinol, Seattle, WA 98101 USA
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Novel COCH mutation in a family with autosomal dominant late onset sensorineural hearing impairment and tinnitus
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Gallant, Emily
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AMERICAN JOURNAL OF OTOLARYNGOLOGY,
2013, 34 (03)
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Gallant, Emily
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h-index: 0
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Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA

Francey, Lauren
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h-index: 0
机构:
Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA

Fetting, Heather
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h-index: 0
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Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA

Kaur, Maninder
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h-index: 0
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Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA

Hakonarson, Hakon
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h-index: 0
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Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA
Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USA
Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA

Clark, Dinah
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h-index: 0
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Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA

Devoto, Marcella
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h-index: 0
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Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA
Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USA
Univ Roma La Sapienza, Dept Mol Med, Rome, Italy Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA

Krantz, Ian D.
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h-index: 0
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Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA
Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA
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Cumulative Effects of Genetic Variants Detected in a Child with Early-Onset Non-Syndromic Obesity Due to SIM-1 Gene Mutation
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Luppino, Giovanni
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Wasniewska, Malgorzata
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Luppino, Giovanni
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Univ Messina, Dept Human Pathol Adulthood & Childhood, Via Consolare Valeria 1, I-98125 Messina, Italy Univ Messina, Dept Human Pathol Adulthood & Childhood, Via Consolare Valeria 1, I-98125 Messina, Italy

Wasniewska, Malgorzata
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h-index: 0
机构:
Univ Messina, Dept Human Pathol Adulthood & Childhood, Via Consolare Valeria 1, I-98125 Messina, Italy
AOU Policlin G Martino, Pediat Unit, Via Consolare Valeria 1, I-98125 Messina, Italy Univ Messina, Dept Human Pathol Adulthood & Childhood, Via Consolare Valeria 1, I-98125 Messina, Italy

Giordano, Mara
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h-index: 0
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Osped Maggiore La Carita, Lab Genet Strut Complessa Direz Univ SCDU Biochim, I-28100 Novara, Italy
Univ Piemonte Orientale, Dept Hlth Sci, I-28100 Novara, Italy Univ Messina, Dept Human Pathol Adulthood & Childhood, Via Consolare Valeria 1, I-98125 Messina, Italy

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Morabito, Letteria Anna
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AOU Policlin G Martino, Pediat Unit, Via Consolare Valeria 1, I-98125 Messina, Italy Univ Messina, Dept Human Pathol Adulthood & Childhood, Via Consolare Valeria 1, I-98125 Messina, Italy

Porri, Debora
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h-index: 0
机构:
Univ Messina, Dept Human Pathol Adulthood & Childhood, Via Consolare Valeria 1, I-98125 Messina, Italy Univ Messina, Dept Human Pathol Adulthood & Childhood, Via Consolare Valeria 1, I-98125 Messina, Italy

Aversa, Tommaso
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h-index: 0
机构:
Univ Messina, Dept Human Pathol Adulthood & Childhood, Via Consolare Valeria 1, I-98125 Messina, Italy
AOU Policlin G Martino, Pediat Unit, Via Consolare Valeria 1, I-98125 Messina, Italy Univ Messina, Dept Human Pathol Adulthood & Childhood, Via Consolare Valeria 1, I-98125 Messina, Italy

Corica, Domenico
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h-index: 0
机构:
Univ Messina, Dept Human Pathol Adulthood & Childhood, Via Consolare Valeria 1, I-98125 Messina, Italy
AOU Policlin G Martino, Pediat Unit, Via Consolare Valeria 1, I-98125 Messina, Italy Univ Messina, Dept Human Pathol Adulthood & Childhood, Via Consolare Valeria 1, I-98125 Messina, Italy
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A clinical variant in SCN1A inherited from a mosaic father cosegregates with a novel variant to cause Dravet syndrome in a consanguineous family
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EPILEPSY RESEARCH,
2015, 113
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Tuncer, Feyza N.
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Istanbul Univ, Inst Expt Med, Dept Genet, TR-34093 Istanbul, Turkey Istanbul Univ, Inst Expt Med, Dept Genet, TR-34093 Istanbul, Turkey

Gormez, Zeliha
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h-index: 0
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Sci & Technol Res Council Turkey TUBITAK BILGEM, Adv Genom & Bioinformat Res Ctr, Kocaeli, Turkey Istanbul Univ, Inst Expt Med, Dept Genet, TR-34093 Istanbul, Turkey

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Uzun, Gunes Altiokka
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Istanbul Univ, Istanbul Fac Med, Dept Neurol, Clin Neurophysiol Unit, Istanbul, Turkey Istanbul Univ, Inst Expt Med, Dept Genet, TR-34093 Istanbul, Turkey

Sagiroglu, Mahmut S.
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h-index: 0
机构:
Sci & Technol Res Council Turkey TUBITAK BILGEM, Adv Genom & Bioinformat Res Ctr, Kocaeli, Turkey Istanbul Univ, Inst Expt Med, Dept Genet, TR-34093 Istanbul, Turkey

Yuceturk, Betul
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h-index: 0
机构:
Sci & Technol Res Council Turkey TUBITAK BILGEM, Adv Genom & Bioinformat Res Ctr, Kocaeli, Turkey Istanbul Univ, Inst Expt Med, Dept Genet, TR-34093 Istanbul, Turkey

Yuksel, Bayram
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h-index: 0
机构:
Sci & Technol Res Council Turkey TUBITAK MAM, Genet Engn & Biotechnol Inst, Kocaeli, Turkey Istanbul Univ, Inst Expt Med, Dept Genet, TR-34093 Istanbul, Turkey

Baykan, Betut
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h-index: 0
机构:
Istanbul Univ, Istanbul Fac Med, Dept Neurol, Clin Neurophysiol Unit, Istanbul, Turkey Istanbul Univ, Inst Expt Med, Dept Genet, TR-34093 Istanbul, Turkey

Bebek, Nerses
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h-index: 0
机构:
Istanbul Univ, Istanbul Fac Med, Dept Neurol, Clin Neurophysiol Unit, Istanbul, Turkey Istanbul Univ, Inst Expt Med, Dept Genet, TR-34093 Istanbul, Turkey

Iscan, Akin
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h-index: 0
机构:
Bezmiatem Vakif Univ, Dept Pediat Neurol, Fac Med, Istanbul, Turkey Istanbul Univ, Inst Expt Med, Dept Genet, TR-34093 Istanbul, Turkey

Iseri, Sibel A. Ugur
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h-index: 0
机构:
Istanbul Univ, Inst Expt Med, Dept Genet, TR-34093 Istanbul, Turkey Istanbul Univ, Inst Expt Med, Dept Genet, TR-34093 Istanbul, Turkey

Ozbek, Ugur
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h-index: 0
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Istanbul Univ, Inst Expt Med, Dept Genet, TR-34093 Istanbul, Turkey Istanbul Univ, Inst Expt Med, Dept Genet, TR-34093 Istanbul, Turkey
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A Novel KCNN2 Variant in a Family with Essential Tremor Plus: Clinical Characteristics and In Silico Analysis
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Ceccarini, Caterina
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h-index: 0
机构:
Univ Foggia, Dept Clin & Expt Med, Med Genet, I-70122 Foggia, Italy Univ Foggia, Dept Clin & Expt Med, Med Genet, I-70122 Foggia, Italy

Savino, Rosa
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h-index: 0
机构:
Policlin Riuniti, Dept Woman & Child, Neuropsychiat Child & Adolescent Unit, I-70122 Foggia, Italy Univ Foggia, Dept Clin & Expt Med, Med Genet, I-70122 Foggia, Italy

Adipietro, Iolanda
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Foggia, Dept Clin & Expt Med, Med Genet, I-70122 Foggia, Italy Univ Foggia, Dept Clin & Expt Med, Med Genet, I-70122 Foggia, Italy

di Bari, Ighli
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Foggia, Dept Clin & Expt Med, Med Genet, I-70122 Foggia, Italy Univ Foggia, Dept Clin & Expt Med, Med Genet, I-70122 Foggia, Italy

Santacroce, Rosa
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Foggia, Dept Clin & Expt Med, Med Genet, I-70122 Foggia, Italy Univ Foggia, Dept Clin & Expt Med, Med Genet, I-70122 Foggia, Italy

Curcetti, Maria
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Foggia, Dept Clin & Expt Med, Med Genet, I-70122 Foggia, Italy Univ Foggia, Dept Clin & Expt Med, Med Genet, I-70122 Foggia, Italy

D'Andrea, Giovanna
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Foggia, Dept Clin & Expt Med, Med Genet, I-70122 Foggia, Italy Univ Foggia, Dept Clin & Expt Med, Med Genet, I-70122 Foggia, Italy

Croce, Anna-Irma
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Foggia, Dept Clin & Expt Med, Med Genet, I-70122 Foggia, Italy Univ Foggia, Dept Clin & Expt Med, Med Genet, I-70122 Foggia, Italy

Cesarano, Carla
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Foggia, Dept Clin & Expt Med, Med Genet, I-70122 Foggia, Italy Univ Foggia, Dept Clin & Expt Med, Med Genet, I-70122 Foggia, Italy

Polito, Anna Nunzia
论文数: 0 引用数: 0
h-index: 0
机构:
Policlin Riuniti, Dept Woman & Child, Neuropsychiat Child & Adolescent Unit, I-70122 Foggia, Italy Univ Foggia, Dept Clin & Expt Med, Med Genet, I-70122 Foggia, Italy

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Novel KMT5B variant associated with neurodevelopmental disorder in a Chinese family: A case report
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Tong, Jiao
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Chen, Xu
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Liu, Yuan
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HELIYON,
2024, 10 (07)

Tong, Jiao
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Lianyungang Maternal & Child Hlth Hosp, Lianyungang, Jiangsu, Peoples R China Lianyungang Maternal & Child Hlth Hosp, Lianyungang, Jiangsu, Peoples R China

Chen, Xu
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h-index: 0
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Lianyungang Maternal & Child Hlth Hosp, Lianyungang, Jiangsu, Peoples R China Lianyungang Maternal & Child Hlth Hosp, Lianyungang, Jiangsu, Peoples R China

Wang, Xin
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h-index: 0
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Lianyungang Maternal & Child Hlth Hosp, Lianyungang, Jiangsu, Peoples R China Lianyungang Maternal & Child Hlth Hosp, Lianyungang, Jiangsu, Peoples R China

Men, Shuai
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h-index: 0
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Lianyungang Maternal & Child Hlth Hosp, Lianyungang, Jiangsu, Peoples R China Lianyungang Maternal & Child Hlth Hosp, Lianyungang, Jiangsu, Peoples R China

Liu, Yuan
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h-index: 0
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Lianyungang Maternal & Child Hlth Hosp, Lianyungang, Jiangsu, Peoples R China Lianyungang Maternal & Child Hlth Hosp, Lianyungang, Jiangsu, Peoples R China

Sun, Xun
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h-index: 0
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Lianyungang Maternal & Child Hlth Hosp, Lianyungang, Jiangsu, Peoples R China Lianyungang Maternal & Child Hlth Hosp, Lianyungang, Jiangsu, Peoples R China

Yan, Dongmei
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h-index: 0
机构:
Lianyungang Maternal & Child Hlth Hosp, Lianyungang, Jiangsu, Peoples R China
9 Qindongmen St, Lianyungang 222000, Peoples R China Lianyungang Maternal & Child Hlth Hosp, Lianyungang, Jiangsu, Peoples R China

Wang, Leilei
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h-index: 0
机构:
Lianyungang Maternal & Child Hlth Hosp, Lianyungang, Jiangsu, Peoples R China
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Novel CALM3 Variant Causing Calmodulinopathy With Variable Expressivity in a 4-Generation Family
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Kato, Koichi
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Isbell, Holly M.
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Denjoy, Isabelle
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CIRCULATION-ARRHYTHMIA AND ELECTROPHYSIOLOGY,
2022, 15 (03)
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Isbell, Holly M.
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h-index: 0
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Univ Iowa, Carver Coll Med, Dept Biochem, Iowa City, IA 52242 USA Shiga Univ Med Sci, Dept Cardiovasc Med, Otsu, Shiga 5202192, Japan

Fressart, Veronique
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h-index: 0
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Sorbonne Univ, Res Unit Cardiovasc & Metab Dis, INSERM, UMRS 1166, Paris, France
Hop La Pitie Salpetriere, AP HP, Funct Unit Cardiogenet & Myogenet, Paris, France Shiga Univ Med Sci, Dept Cardiovasc Med, Otsu, Shiga 5202192, Japan

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Poinsot, Jacques
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CHU Tours, Serv Med Pediat, Unite Cardiopediat, Tours, France Shiga Univ Med Sci, Dept Cardiovasc Med, Otsu, Shiga 5202192, Japan

George, Alfred L., Jr.
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h-index: 0
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Northwestern Univ, Dept Pharmacol, Feinberg Sch Med, Chicago, IL 60611 USA Shiga Univ Med Sci, Dept Cardiovasc Med, Otsu, Shiga 5202192, Japan

Coulombe, Alain
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h-index: 0
机构:
Sorbonne Univ, Res Unit Cardiovasc & Metab Dis, INSERM, UMRS 1166, Paris, France Shiga Univ Med Sci, Dept Cardiovasc Med, Otsu, Shiga 5202192, Japan

Shea, Madeline A.
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h-index: 0
机构:
Univ Iowa, Carver Coll Med, Dept Biochem, Iowa City, IA 52242 USA Shiga Univ Med Sci, Dept Cardiovasc Med, Otsu, Shiga 5202192, Japan

Guicheney, Pascale
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h-index: 0
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Sorbonne Univ, Res Unit Cardiovasc & Metab Dis, INSERM, UMRS 1166, Paris, France Shiga Univ Med Sci, Dept Cardiovasc Med, Otsu, Shiga 5202192, Japan
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Identification and functional characterization of a novel splicing variant in the F8 coagulation gene causing severe hemophilia A
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Fama, Rosella
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2020, 18 (05)
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Fama, Rosella
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h-index: 0
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Univ Piemonte Orientale, Dept Hlth Sci, Novara, Italy Univ Piemonte Orientale, Dept Hlth Sci, Novara, Italy

Borroni, Ester
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Zanolini, Diego
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Merlin, Simone
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Bruscaggin, Valentina
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Walker, Gillian E.
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Olgasi, Cristina
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Univ Piemonte Orientale, Dept Hlth Sci, Novara, Italy Univ Piemonte Orientale, Dept Hlth Sci, Novara, Italy

Babu, Deepak
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Giacchello, Jacopo Agnelli
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Citta Salute & Sci, Hemostasis & Thrombosis Unit, Turin, Italy Univ Piemonte Orientale, Dept Hlth Sci, Novara, Italy

Valeri, Federica
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Citta Salute & Sci, Hemostasis & Thrombosis Unit, Turin, Italy Univ Piemonte Orientale, Dept Hlth Sci, Novara, Italy

Giordano, Mara
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Borchiellini, Alessandra
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Citta Salute & Sci, Hemostasis & Thrombosis Unit, Turin, Italy Univ Piemonte Orientale, Dept Hlth Sci, Novara, Italy

Follenzi, Antonia
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