Jozef Hertecant: search on Z-Library

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1

Phenotypic and Molecular Spectrum of Aicardi–Goutières Syndrome: a Study of 24 Patients

Al Mutairi, Fuad, Alfadhel, Majid, Nashabat, Marwan, El-Hattab, Ayman W., Ben-Omran, Tawfeg, Hertecant, Jozef, Eyaid, Wafaa, Ali, Rehab, Alasmari, Ali, Kara, Majdi, Al-Twaijri, Waleed, Filimban, Rana,

Journal:

Pediatric Neurology

Year:

2017

Language:

english

File:

PDF, 1.05 MB

english, 2017

2

Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates

Al-Shamsi, Aisha, Hertecant, Jozef L., Souid, Abdul-Kader, Al-Jasmi, Fatma A.

Journal:

Orphanet Journal of Rare Diseases

Year:

2016

Language:

english

File:

PDF, 477 KB

english, 2016

3

Homozygous variants in pyrroline-5-carboxylate reductase 2 ( PYCR2 ) in patients with progressive microcephaly and hypomyelinating leukodystrophy

Meng, Linyan, Donti, Taraka, Xia, Fan, Niu, Zhiyv, Al Shamsi, Aisha, Hertecant, Jozef, Al-Jasmi, Fatma, Gibson, James B., Nagakura, Honey, Zhang, Jing, He, Weimin, Eng, Christine, Yang, Yaping, Elsea,

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 1.88 MB

english, 2016

4

A homozygous splicing mutation inELAC2suggests phenotypic variability including intellectual disability with minimal cardiac involvement

Nadia A. Akawi,Salma Ben-Salem,Jozef Hertecant…

Journal:

Orphanet Journal of Rare Diseases

Year:

2016

Language:

english

File:

PDF, 2.34 MB

english, 2016

5

West syndrome, developmental and epileptic encephalopathy, and severe CNS disorder associated with WWOX mutations

Shaukat, Qudsia, Hertecant, Jozef, El-Hattab, Ayman W., Ali, Bassam R., Suleiman, Jehan

Journal:

Epileptic Disorders

Year:

2018

Language:

english

File:

PDF, 2.04 MB

english, 2018

6

A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome

Cuvertino, Sara, Hartill, Verity, Colyer, Alice, Garner, Terence, Nair, Nisha, Al-Gazali, Lihadh, Canham, Natalie, Faundes, Victor, Flinter, Frances, Hertecant, Jozef, Holder-Espinasse, Muriel, Jackso

Journal:

Genetics in Medicine

Year:

2020

Language:

english

File:

PDF, 1.53 MB

english, 2020

7

Pneumatosis and pneumoperitoneum in chronic idiopathic intestinal pseudoobstruction

François I. Luks, Maureen A. Chung, Mary L. Brandt, Jozef Hertecant, Claude C. Roy, Hervé Blanchard, AriéL. Bensoussan

Journal:

Journal of Pediatric Surgery

Year:

1991

Language:

english

File:

PDF, 281 KB

english, 1991

8

Congenital insensitivity to pain with anhidrosis

László Sztriha, Gilles G Lestringant, Jozef Hertecant, Philippe M Frossard, Isabelle Masouyé

Journal:

Pediatric Neurology

Year:

2001

Language:

english

File:

PDF, 425 KB

english, 2001

9

Identification of Mutations Underlying 20 Inborn Errors of Metabolism in the United Arab Emirates Population

Ben-Rebeh, Imen, Hertecant, Jozef L., Al-Jasmi, Fatma A., Aburawi, Hanan E., Al-Yahyaee, Said A., Al-Gazali, Lihadh, Ali, Bassam R.

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2012

Language:

english

File:

PDF, 135 KB

english, 2012

10

Clinical and molecular analysis of isovaleric acidemia patients in the United Arab Emirates reveals remarkable phenotypes and four novel mutations in the IVD gene

Hertecant, Jozef L., Ben-Rebeh, Imen, Marah, Muhaned A., Abbas, Thikra, Ayadi, Leila, Ben Salem, Salma, Al-Jasmi, Fatma A., Al-Gazali, Lihadh, Al-Yahyaee, Said A., Ali, Bassam R.

Journal:

European Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 392 KB

english, 2012

11

Whole-Genome Analysis Reveals that Mutations in Inositol Polyphosphate Phosphatase-like 1 Cause Opsismodysplasia

Below, Jennifer E., Earl, Dawn L., Shively, Kathryn M., McMillin, Margaret J., Smith, Joshua D., Turner, Emily H., Stephan, Mark J., Al-Gazali, Lihadh I., Hertecant, Jozef L., Chitayat, David, Unger,

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 496 KB

english, 2013

12

Mutations in COA6 cause Cytochrome c Oxidase Deficiency and Neonatal Hypertrophic Cardiomyopathy

Baertling, Fabian, A.M. van den Brand, Mariel, Hertecant, Jozef L., Al-Shamsi, Aisha, P. van den Heuvel, Lambert, Distelmaier, Felix, Mayatepek, Ertan, Smeitink, Jan A., Nijtmans, Leo G.J., Rodenburg,

Journal:

Year:

2015

Language:

english

File:

PDF, 378 KB

english, 2015

13

Zellweger syndrome and secondary mitochondrial myopathy

Salpietro, Vincenzo, Phadke, Rahul, Saggar, Anand, Hargreaves, Iain P., Yates, Robert, Fokoloros, Christos, Mankad, Kshitij, Hertecant, Jozef, Ruggieri, Martino, McCormick, David, Kinali, Maria

Journal:

European Journal of Pediatrics

Year:

2015

Language:

english

File:

PDF, 4.84 MB

english, 2015

14

Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates

Ben-Salem, Salma, Hertecant, Jozef, Al-Shamsi, Aisha M., Ali, Bassam R., Al-Gazali, Lihadh

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

2013

Language:

english

File:

PDF, 375 KB

english, 2013

15

Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay

Ben-Salem, Salma, Gleeson, Joseph G., Al-Shamsi, Aisha M., Islam, Barira, Hertecant, Jozef, Ali, Bassam R., Al-Gazali, Lihadh

Journal:

Metabolic Brain Disease

Year:

2015

Language:

english

File:

PDF, 608 KB

english, 2015

16

Transaldolase deficiency caused by the homozygous p.R192C mutation of theTALDO1gene in four Emirati patients with considerable phenotypic variability

Al-Shamsi, Aisha M., Ben-Salem, Salma, Hertecant, Jozef, Al-Jasmi, Fatma

Journal:

European Journal of Pediatrics

Year:

2015

Language:

english

File:

PDF, 770 KB

english, 2015

17

A novel disorder reveals clathrin heavy chain-22 is essential for human pain and touch development

Nahorski, Michael S., Al-Gazali, Lihadh, Hertecant, Jozef, Owen, David J., Borner, Georg H. H., Chen, Ya-Chun, Benn, Caroline L., Carvalho, Ofélia P., Shaikh, Samiha S., Phelan, Anne, Robinson, Margar

Journal:

Year:

2015

Language:

english

File:

PDF, 1.67 MB

english, 2015

18

On the phenotypic spectrum of serine biosynthesis defects

El-Hattab, Ayman W., Shaheen, Ranad, Hertecant, Jozef, Galadari, Hassan I., Albaqawi, Badi S., Nabil, Amira, Alkuraya, Fowzan S.

Journal:

Journal of Inherited Metabolic Disease

Year:

2016

Language:

english

File:

PDF, 3.00 MB

english, 2016

19

A novel de novo mutation in DYNC1H1 gene underlying malformation of cortical development and cataract

Hertecant, Jozef, Komara, Makanko, Nagi, Aslam, Suleiman, Jehan, Al-Gazali, Lihadh, Ali, Bassam R.

Journal:

Year:

2016

Language:

english

File:

PDF, 516 KB

english, 2016

20

A de novo mutation in the X-linked PAK3 gene is the underlying cause of intellectual disability and macrocephaly in monozygotic twins

Hertecant, Jozef, Komara, Makanko, Nagi, Aslam, Al-Zaabi, Olfat, Fathallah, Waseem, Cui, Hong, Yang, Yaping, Eng, Christine M., Al Sorkhy, Mohammad, Ghattas, Mohammad A., Al-Gazali, Lihadh, Ali, Bassa

Journal:

European Journal of Medical Genetics

Year:

2017

Language:

english

File:

PDF, 919 KB

english, 2017

21

Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies

Rodan, Lance H., Hauptman, Marissa, D'Gama, Alissa M., Qualls, Anita E., Cao, Siqi, Tuschl, Karin, Al-Jasmi, Fatma, Hertecant, Jozef, Hayflick, Susan J., Wessling-Resnick, Marianne, Yang, Edward T., B

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 1.06 MB

english, 2018

22

A recessive truncating variant in thrombospondin-1 domain containing protein 1 gene THSD1 is the underlying cause of nonimmune hydrops fetalis, congenital cardiac defects, and haemangiomas in four patients from a consanguineous family

Abdelrahman, Hanadi A., Al-Shamsi, Aisha, John, Anne, Hertecant, Jozef, Lootah, Ali, Ali, Bassam R., Al-Gazali, Lihadh

Journal:

American Journal of Medical Genetics Part A

Year:

2018

Language:

english

File:

PDF, 1.19 MB

english, 2018

23

EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome

Pathak, Sagar J., Mueller, James L., Okamoto, Kevin, Das, Barun, Hertecant, Jozef, Greenhalgh, Lynn, Cole, Trevor, Pinsk, Vered, Yerushalmi, Baruch, Gurkan, Odul E., Yourshaw, Michael, Hernandez, Eric

Journal:

Year:

2018

Language:

english

File:

PDF, 2.22 MB

english, 2018

24

Meet Our Editorial Board Member:

Hertecant, Jozef

Journal:

Applied Clinical Research Clinical Trials and Regulatory Affairs

Year:

2015

Language:

english

File:

PDF, 139 KB

english, 2015

25

Assessment of methylcitrate and methylcitrate to citrate ratio in dried blood spots as biomarkers for inborn errors of propionate metabolism

Al-Dirbashi, Osama Y., Alfadhel, Majid, Al-Thihli, Khalid, Al Dhahouri, Nahid, Langhans, Claus-Dieter, Al Hammadi, Zalikha, Al-Shamsi, Aisha, Hertecant, Jozef, Okun, Jürgen G., Hoffmann, Georg F., Al-

Journal:

Scientific Reports

Year:

2019

Language:

english

File:

PDF, 1.06 MB

english, 2019

26

Untreated PKU Patients without Intellectual Disability: What Do They Teach Us?

van Vliet, Danique, van Wegberg, Annemiek M.J., Ahring, Kirsten, Bik-Multanowski, Miroslaw, Casas, Kari, Didycz, Bozena, Djordjevic, Maja, Hertecant, Jozef L., Leuzzi, Vincenzo, Mathisen, Per, Nardecc

Journal:

Year:

2019

Language:

english

File:

PDF, 228 KB

english, 2019

27

Untreated PKU Patients without Intellectual Disability: What Do They Teach Us?

van Vliet, Danique, van Wegberg, Annemiek M.J., Ahring, Kirsten, Bik-Multanowski, Miroslaw, Casas, Kari, Didycz, Bozena, Djordjevic, Maja, Hertecant, Jozef L., Leuzzi, Vincenzo, Mathisen, Per, Nardecc

Journal:

Year:

2019

File:

PDF, 228 KB

2019

28

RARS1 ‐related hypomyelinating leukodystrophy: Expanding the spectrum

Mendes, Marisa I., Green, Lydia M. C., Bertini, Enrico, Tonduti, Davide, Aiello, Chiara, Smith, Desiree, Salsano, Ettore, Beerepoot, Shanice, Hertecant, Jozef, Spiczak, Sarah, Livingston, John H., Emr

Journal:

Annals of Clinical and Translational Neurology

Year:

2019

File:

PDF, 1.27 MB

2019

29

Endothelial Dysfunction and the Effect of Arginine and Citrulline Supplementation in Children and Adolescents With Mitochondrial Diseases

Al Jasmi, Fatma, Al Zaabi, Nuha, Al-Thihli, Khalid, Al Teneiji, Amal M, Hertecant, Jozef, El-Hattab, Ayman W

Journal:

Journal of Central Nervous System Disease

Year:

2020

Language:

english

File:

PDF, 303 KB

english, 2020

30

Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome

Cuvertino, Sara, Hartill, Verity, Colyer, Alice, Garner, Terence, Nair, Nisha, Al-Gazali, Lihadh, Canham, Natalie, Faundes, Victor, Flinter, Frances, Hertecant, Jozef, Holder-Espinasse, Muriel, Jackso

Journal:

Genetics in Medicine

Year:

2020

Language:

english

File:

PDF, 242 KB

english, 2020

31

Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy

Marafi, Dana, Mitani, Tadahiro, Isikay, Sedat, Hertecant, Jozef, Almannai, Mohammed, Manickam, Kandamurugu, Abou Jamra, Rami, El-Hattab, Ayman W., Rajah, Jaishen, Fatih, Jawid M., Du, Haowei, Karaca,

Journal:

Annals of Clinical and Translational Neurology

Year:

2020

File:

PDF, 5.04 MB

2020

32

Unique Mutation in SP110 Resulting in Hepatic Veno-Occlusive Disease with Immunodeficiency

Hamdoun, Osama, Al Mulla, Asia, Al Zaabi, Shamma, Shendi, Hiba, Al Ghamdi, Sharifa, Hertecant, Jozef, Al-Shibli, Amar

Journal:

Case Reports in Pediatrics

Year:

2020

File:

PDF, 1.45 MB

2020

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