THE MANY FACES OF PEROXISOMAL DISORDERS: LESSONS FROM A LARGE COHORT

被引：0

作者：

Alshenaifi, Jumanah ^{[1
,2
]}

Shaheen, Ranad ^{[3
]}

Alkuraya, Fowzan S. ^{[3
,4
]}

机构：

[1] King Saud Univ, King Khalid Univ Hosp, Dept Pathol, Riyadh, Saudi Arabia

[2] King Saud Univ, Coll Med, Riyadh, Saudi Arabia

[3] King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh, Saudi Arabia

[4] Alfaisal Univ, Dept Anat & Cell Biol, Coll Med, Riyadh, Saudi Arabia

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2018年 / 176卷 / 06期

关键词：

D O I：

暂无

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：1478 / 1478

页数：1

共 50 条

[31] The many Faces of Learning Disorders Treatment Problems in a psychotherapy Outpatient Department for Students [J].

Reich, Guenter ;

Hohmeier, Jens ;

Lewien, Antje ;

Maelzig, Ulrike ;

Reinhold, Jennifer ;

Scholz, Ricarda ;

Usher, Juliana ;

Witschas, Rico ;

Stahmer-Ropers, Meike .

PSYCHOTHERAPEUT, 2017, 62 (05) :436-439

[32] Rare disorders have many faces: in silico characterization of rare disorder spectrum [J].

Frederiksen, Simona D. ;

Avramovic, Vladimir ;

Maroilley, Tatiana ;

Lehman, Anna ;

Arbour, Laura ;

Tarailo-Graovac, Maja .

ORPHANET JOURNAL OF RARE DISEASES, 2022, 17 (01)

[33] Many Faces of the Hidden Souls: Medical and Neurological Complications and Comorbidities in Disorders of Consciousness [J].

Zhang, Bei ;

Huang, Karen ;

Karri, Jay ;

O'Brien, Katherine ;

DiTommaso, Craig ;

Li, Sheng .

BRAIN SCIENCES, 2021, 11 (05)

[34] Rare disorders have many faces: in silico characterization of rare disorder spectrum [J].

Simona D. Frederiksen ;

Vladimir Avramović ;

Tatiana Maroilley ;

Anna Lehman ;

Laura Arbour ;

Maja Tarailo-Graovac .

Orphanet Journal of Rare Diseases, 17

[35] Inpatient Palliative Care for Neurological Disorders: Lessons from a Large Retrospective Series [J].

Liu, Ying ;

Kline, Danielle ;

Aerts, Shanae ;

Youngwerth, Jeanie M. ;

Kutner, Jean S. ;

Sillau, Stefan ;

Kluger, Benzi M. .

JOURNAL OF PALLIATIVE MEDICINE, 2017, 20 (01) :59-64

[36] Lethal variants in humans: lessons learned from a large molecular autopsy cohort [J].

Hanan E. Shamseldin ;

Lama AlAbdi ;

Sateesh Maddirevula ;

Hessa S. Alsaif ;

Fatema Alzahrani ;

Nour Ewida ;

Mais Hashem ;

Firdous Abdulwahab ;

Omar Abuyousef ;

Hiroyuki Kuwahara ;

Xin Gao ;

Fowzan S. Alkuraya .

Genome Medicine, 13

[37] Lessons Learned from Studying the Genomics of a Large Recessive Neurodevelopmental Disorder Cohort [J].

Pehlivan, Davut ;

Mitani, Tadahiro ;

Fatih, Jawid M. ;

Herman, Isabella ;

Calame, Daniel G. ;

Akay, Gulsen ;

Du, Haowei ;

Grochowski, Christopher M. ;

Jolly, Angad ;

Dawood, Moez ;

Duan, Ruizhi ;

Jhangiani, Shalini ;

Marafi, Dana ;

Akdemir, Zeynep Coban ;

Carvalho, Claudia M. B. ;

Gibbs, Richard A. ;

Lupski, James R. ;

Posey, Jennifer E. .

ANNALS OF NEUROLOGY, 2021, 90 :S197-S197

[38] Lethal variants in humans: lessons learned from a large molecular autopsy cohort [J].

Shamseldin, Hanan E. ;

AlAbdi, Lama ;

Maddirevula, Sateesh ;

Alsaif, Hessa S. ;

Alzahrani, Fatema ;

Ewida, Nour ;

Hashem, Mais ;

Abdulwahab, Firdous ;

Abuyousef, Omar ;

Kuwahara, Hiroyuki ;

Gao, Xin ;

Alkuraya, Fowzan S. .

GENOME MEDICINE, 2021, 13 (01)

[39] Primary mitochondrial disorders and mimics: Insights from a large French cohort [J].

Rouzier, Cecile ;

Pion, Emmanuelle ;

Chaussenot, Annabelle ;

Bris, Celine ;

Ait-El-Mkadem Saadi, Samira ;

Desquiret-Dumas, Valerie ;

Gueguen, Naig ;

Fragaki, Konstantina ;

Amati-Bonneau, Patrizia ;

Barcia, Giulia ;

Gaignard, Pauline ;

Steffann, Julie ;

Pennisi, Alessandra ;

Bonnefont, Jean-Paul ;

Lebigot, Elise ;

Bannwarth, Sylvie ;

Francou, Bruno ;

Rucheton, Benoit ;

Sternberg, Damien ;

Martin-Negrier, Marie-Laure ;

Trimouille, Aurelien ;

Hardy, Gaelle ;

Allouche, Stephane ;

Acquaviva-Bourdain, Cecile ;

Pagan, Cecile ;

Lebre, Anne-Sophie ;

Reynier, Pascal ;

Cossee, Mireille ;

Attarian, Shahram ;

Paquis-Flucklinger, Veronique ;

Procaccio, Vincent .

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 2024, 11 (06) :1478-1491

[40] From The many faces of infinity to the world of Patrizia Pozzi [J].

Veneziano, Rossana .

COMUNICAZIONE FILOSOFICA, 2022, (49) :141-147

← 1 2 3 4 5 →