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Refinado por: Base de dados/Biblioteca: Wiley-Blackwell Full Collection 2013 remover
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1
Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in Humans
Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in Humans
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Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in Humans

Shaheen, Ranad ; Alsahli, Saud ; Ewida, Nour ; Alzahrani, Fatema ; Shamseldin, Hanan E. ; Patel, Nisha ; Al Qahtani, Awad ; Alhebbi, Homoud ; Alhashem, Amal ; Al‐Sheddi, Tarfa ; Alomar, Rana ; Alobeid, Eman ; Abouelhoda, Mohamed ; Monies, Dorota ; Al‐Hussaini, Abdulrahman ; Alzouman, Muneerah A. ; Shagrani, Mohammad ; Faqeih, Eissa ; Alkuraya, Fowzan S.

Hepatology (Baltimore, Md.), 2020-06, Vol.71 (6), p.2067-2079 [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

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2
β1 Integrin is essential for fascin‐mediated breast cancer stem cell function and disease progression
β1 Integrin is essential for fascin‐mediated breast cancer stem cell function and disease progression
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β1 Integrin is essential for fascin‐mediated breast cancer stem cell function and disease progression

Barnawi, Rayanah ; Al‐Khaldi, Samiyah ; Colak, Dilek ; Tulbah, Asma ; Al‐Tweigeri, Taher ; Fallatah, Mohannad ; Monies, Dorota ; Ghebeh, Hazem ; Al‐Alwan, Monther

International journal of cancer, 2019-08, Vol.145 (3), p.830-841 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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3
PLACK syndrome is potentially treatable with intralipids
PLACK syndrome is potentially treatable with intralipids
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PLACK syndrome is potentially treatable with intralipids

Sawan, Zinab A. ; Almehaidib, Ali ; Binamer, Yousef ; Monies, Dorota ; Alsaleem, Khalid A. ; Aldekhail, Wajeeh ; Alkuraya, Fowzan S. ; Abanemai, Mohammed

Clinical genetics, 2021-04, Vol.99 (4), p.572-576 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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4
Hematological findings associated with tubulin‐folding cofactors D‐related encephalopathy: Expanding the phenotype
Hematological findings associated with tubulin‐folding cofactors D‐related encephalopathy: Expanding the phenotype
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Hematological findings associated with tubulin‐folding cofactors D‐related encephalopathy: Expanding the phenotype

Al‐Bakheet, Albandary ; Tohary, Mohamed ; Khan, Sameena ; Chedrawi, Aziza ; Edrees, Alaa ; Tous, Ehab ; Al‐Mousa, Hamoud ; Al‐Otaibi, Lefian ; AlShahrani, Saif ; Alsagob, Maysoon ; Al‐Quait, Laila ; Almass, Rawan ; Al‐Joudi, Haya ; Monies, Dorota ; Al‐Semari, Abdulaziz ; Aldosary, Mazhor ; Daghestani, Maha ; Colak, Dilek ; Kaya, Namik ; Al‐Owain, Mohammed

Clinical genetics, 2021-05, Vol.99 (5), p.724-731 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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5
Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities
Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities
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Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities

Alrakaf, Laila ; Al‐Owain, Mohammed A. ; Busehail, Maryam ; Alotaibi, Maha A. ; Monies, Dorota ; Aldhalaan, Hesham M. ; Alhashem, Amal ; Al‐Hassnan, Zuhair N. ; Rahbeeni, Zuhair A. ; Murshedi, Fathiya Al ; Ani, Nadia Al ; Al‐Maawali, Almundher ; Ibrahim, Niema A. ; Abdulwahab, Firdous M. ; Alsagob, Maysoon ; Hashem, Mais O. ; Ramadan, Wafaa ; Abouelhoda, Mohamed ; Meyer, Brian F. ; Kaya, Namik ; Maddirevula, Sateesh ; Alkuraya, Fowzan S.

American journal of medical genetics. Part A, 2018-03, Vol.176 (3), p.715-721 [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

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6
A novel deletion of the MEN1 gene in a large family of multiple endocrine neoplasia type 1 (MEN1) with aggressive phenotype
A novel deletion of the MEN1 gene in a large family of multiple endocrine neoplasia type 1 (MEN1) with aggressive phenotype
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A novel deletion of the MEN1 gene in a large family of multiple endocrine neoplasia type 1 (MEN1) with aggressive phenotype

Raef, Hussein ; Zou, Minjing ; Baitei, Essa Y. ; Al-Rijjal, Roua A. ; Kaya, Namik ; Al-Hamed, Mohamed ; Monies, Dorota ; Abu-Dheim, Nada N. ; Al-Hindi, Hindi ; Al-Ghamdi, Mohammed H. ; Meyer, Brian F. ; Shi, Yufei

Clinical endocrinology (Oxford), 2011-12, Vol.75 (6), p.791-800 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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7
Allelic heterogeneity in inbred populations: The Saudi experience with Alström syndrome as an illustrative example
Allelic heterogeneity in inbred populations: The Saudi experience with Alström syndrome as an illustrative example
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Allelic heterogeneity in inbred populations: The Saudi experience with Alström syndrome as an illustrative example

Aldahmesh, Mohamed A. ; Abu‐Safieh, Leen ; Khan, Arif O. ; Al‐Hassnan, Zuhair N. ; Shaheen, Ranad ; Rajab, Mohammed ; Monies, Dorota ; Meyer, Brian F. ; Alkuraya, Fowzan S.

American journal of medical genetics. Part A, 2009-04, Vol.149A (4), p.662-665 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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8
Congenital disorder of glycosylation IIa: The trouble with diagnosing a dysmorphic inborn error of metabolism
Congenital disorder of glycosylation IIa: The trouble with diagnosing a dysmorphic inborn error of metabolism
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Congenital disorder of glycosylation IIa: The trouble with diagnosing a dysmorphic inborn error of metabolism

Alazami, Anas M. ; Monies, Dorota ; Meyer, Brian F. ; Alzahrani, Fatema ; Hashem, Mais ; Salih, Mustafa A. ; Alkuraya, Fowzan S.

American journal of medical genetics. Part A, 2012-01, Vol.158A (1), p.245-246 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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9
A novel deletion of the MEN1 gene in a large family of multiple endocrine neoplasia type 1 (MEN1) with aggressive phenotype: MEN1 deletion in MEN1 syndrome
A novel deletion of the MEN1 gene in a large family of multiple endocrine neoplasia type 1 (MEN1) with aggressive phenotype: MEN1 deletion in MEN1 syndrome
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A novel deletion of the MEN1 gene in a large family of multiple endocrine neoplasia type 1 (MEN1) with aggressive phenotype: MEN1 deletion in MEN1 syndrome

Raef, Hussein ; Zou, Minjing ; Baitei, Essa Y. ; Al-Rijjal, Roua A. ; Kaya, Namik ; Al-Hamed, Mohamed ; Monies, Dorota ; Abu-Dheim, Nada N. ; Al-Hindi, Hindi ; Al-Ghamdi, Mohammed H. ; Meyer, Brian F. ; Shi, Yufei

Clinical endocrinology (Oxford), 2011-12, Vol.75 (6), p.791-800 [Periódico revisado por pares]

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10
Congenital Disorder of Glycosylation Ila: The Trouble With Diagnosing a Dysmorphic Inborn Error of Metabolism
Congenital Disorder of Glycosylation Ila: The Trouble With Diagnosing a Dysmorphic Inborn Error of Metabolism
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Congenital Disorder of Glycosylation Ila: The Trouble With Diagnosing a Dysmorphic Inborn Error of Metabolism

ALAZAMI, Anas M ; MONIES, Dorota ; MEYER, Brian F ; ALZAHRANI, Fatema ; HASHEM, Mais ; SALIH, Mustafa A ; ALKURAYA, Fowzan S

American journal of medical genetics. Part A, 2012, Vol.158 (1), p.245-246 [Periódico revisado por pares]

Chichester: Wiley-Liss

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