skip to main content
Idioma:
Resultados 1 2 3 4 next page
Mostrar Somente
Result Number Material Type Add to My Shelf Action Record Details and Options
1
Expanding the phenotype, genotype and biochemical knowledge of ALG3‐CDG
Expanding the phenotype, genotype and biochemical knowledge of ALG3‐CDG
Material Type:
Artigo 		Adicionar ao Meu Espaço

Expanding the phenotype, genotype and biochemical knowledge of ALG3‐CDG

Alsharhan, Hind ; Ng, Bobby G. ; Daniel, Earnest James Paul ; Friedman, Jennifer ; Pivnick, Eniko K. ; Al‐Hashem, Amal ; Faqeih, Eissa Ali ; Liu, Pengfei ; Engelhardt, Nicole M. ; Keller, Kierstin N. ; Chen, Jie ; Mazzeo, Pamela A. ; Rosenfeld, Jill A. ; Bamshad, Michael J. ; Nickerson, Deborah A. ; Raymond, Kimiyo M. ; Freeze, Hudson H. ; He, Miao ; Edmondson, Andrew C. ; Lam, Christina

Journal of inherited metabolic disease, 2021-07, Vol.44 (4), p.987-1000 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

Texto completo disponível

Citações Citado por
2
Characterizing the morbid genome of ciliopathies
Characterizing the morbid genome of ciliopathies
Material Type:
Artigo 		Adicionar ao Meu Espaço

Characterizing the morbid genome of ciliopathies

Shaheen, Ranad ; Szymanska, Katarzyna ; Basu, Basudha ; Patel, Nisha ; Ewida, Nour ; Faqeih, Eissa ; Al Hashem, Amal ; Derar, Nada ; Alsharif, Hadeel ; Aldahmesh, Mohammed A ; Alazami, Anas M ; Hashem, Mais ; Ibrahim, Niema ; Abdulwahab, Firdous M ; Sonbul, Rawda ; Alkuraya, Hisham ; Alnemer, Maha ; Al Tala, Saeed ; Al-Husain, Muneera ; Morsy, Heba ; Seidahmed, Mohammed Zain ; Meriki, Neama ; Al-Owain, Mohammed ; AlShahwan, Saad ; Tabarki, Brahim ; Salih, Mustafa A ; Faquih, Tariq ; El-Kalioby, Mohamed ; Ueffing, Marius ; Boldt, Karsten ; Logan, Clare V ; Parry, David A ; Al Tassan, Nada ; Monies, Dorota ; Megarbane, Andre ; Abouelhoda, Mohamed ; Halees, Anason ; Johnson, Colin A ; Alkuraya, Fowzan S

Genome Biology, 2016-11, Vol.17 (1), p.242-242, Article 242 [Periódico revisado por pares]

England: BioMed Central

Texto completo disponível

Citações Citado por
3
The fragile site WWOX gene and the developing brain
The fragile site WWOX gene and the developing brain
Material Type:
Artigo 		Adicionar ao Meu Espaço

The fragile site WWOX gene and the developing brain

Tabarki, Brahim ; Al Mutairi, Fuad ; Al Hashem, Amal

Experimental biology and medicine (Maywood, N.J.), 2015-03, Vol.240 (3), p.400-402 [Periódico revisado por pares]

London, England: SAGE Publications

Texto completo disponível

Citações Citado por
4
A novel variant in ATM gene causes ataxia telangiectasia revealed by whole-exome sequencing
A novel variant in ATM gene causes ataxia telangiectasia revealed by whole-exome sequencing
Material Type:
Artigo 		Adicionar ao Meu Espaço

A novel variant in ATM gene causes ataxia telangiectasia revealed by whole-exome sequencing

Alonazi, Noufa A ; Hundallah, Khalid J ; Al Hashem, Amal M ; Mohamed, Sarar

Neurosciences (Riyadh, Saudi Arabia), 2018-04, Vol.23 (2), p.162-164 [Periódico revisado por pares]

Saudi Arabia: Saudi Medical Journal

Texto completo disponível

Citações Citado por
5
The prevalence and phenotypic range associated with biallelic PKDCC variants
The prevalence and phenotypic range associated with biallelic PKDCC variants
Material Type:
Artigo 		Adicionar ao Meu Espaço

The prevalence and phenotypic range associated with biallelic PKDCC variants

Pagnamenta, Alistair T. ; Belles, Rebecca S. ; Salbert, Bonnie Anne ; Wentzensen, Ingrid M. ; Guillen Sacoto, Maria J. ; Santos, Francis Jeshira Reynoso ; Caffo, Alesky ; Ferla, Matteo ; Banos‐Pinero, Benito ; Pawliczak, Karolina ; Makvand, Mina ; Najmabadi, Hossein ; Maroofian, Reza ; Lester, Tracy ; Yanez‐Felix, Ana Lucia ; Villarroel‐Cortes, Camilo E. ; Xia, Fan ; Al Fayez, Khowla ; Al Hashem, Amal ; Shears, Deborah ; Irving, Melita ; Offiah, Amaka C. ; Kariminejad, Ariana ; Taylor, Jenny C.

Clinical genetics, 2023-07, Vol.104 (1), p.121-126 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

Texto completo disponível

Citações Citado por
6
Patterns of folic acid use in pregnant Saudi women and prevalence of neural tube defects — Results from a nested case–control study
Patterns of folic acid use in pregnant Saudi women and prevalence of neural tube defects — Results from a nested case–control study
Material Type:
Artigo 		Adicionar ao Meu Espaço

Patterns of folic acid use in pregnant Saudi women and prevalence of neural tube defects — Results from a nested case–control study

Al Rakaf, Maha S ; Kurdi, Ahmed M ; Ammari, Amer N ; Al Hashem, Amal M ; Shoukri, Mohamed M ; Garne, Ester ; Majeed-Saidan, Muhammad Ali

Preventive medicine reports, 2015, Vol.2 (C), p.572-576 [Periódico revisado por pares]

United States: Elsevier Inc

Texto completo disponível

Citações Citado por
7
Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia
Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia
Material Type:
Artigo 		Adicionar ao Meu Espaço

Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia

Wakil, Salma M ; Alhissi, Safa ; Al Dossari, Haya ; Alqahtani, Ayesha ; Shibin, Sherin ; Melaiki, Brahim T ; Finsterer, Josef ; Al-Hashem, Amal ; Bohlega, Saeed ; Alazami, Anas M

BMC medical genetics, 2019-07, Vol.20 (1), p.119-119, Article 119 [Periódico revisado por pares]

England: BioMed Central Ltd

Texto completo disponível

Citações Citado por
8
Positional mapping of PRKD1, NRP1 and PRDM1 as novel candidate disease genes in truncus arteriosus
Positional mapping of PRKD1, NRP1 and PRDM1 as novel candidate disease genes in truncus arteriosus
Material Type:
Artigo 		Adicionar ao Meu Espaço

Positional mapping of PRKD1, NRP1 and PRDM1 as novel candidate disease genes in truncus arteriosus

Shaheen, Ranad ; Al Hashem, Amal ; Alghamdi, Mohammed H ; Seidahmad, Mohammed Zain ; Wakil, Salma M ; Dagriri, Khalid ; Keavney, Bernard ; Goodship, Judith ; Alyousif, Saad ; Al-Habshan, Fahad M ; Alhussein, Khalid ; Almoisheer, Agaadir ; Ibrahim, Niema ; Alkuraya, Fowzan S

Journal of medical genetics, 2015-05, Vol.52 (5), p.322-329 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

Texto completo disponível

Citações Citado por
9
Clinical profile and mutation spectrum of long QT syndrome in Saudi Arabia: The impact of consanguinity
Clinical profile and mutation spectrum of long QT syndrome in Saudi Arabia: The impact of consanguinity
Material Type:
Artigo 		Adicionar ao Meu Espaço

Clinical profile and mutation spectrum of long QT syndrome in Saudi Arabia: The impact of consanguinity

Al-Hassnan, Zuhair N., MD ; Al-Fayyadh, Majid, MD ; Al-Ghamdi, Bander, MD ; Shafquat, Azam, MD ; Mallawi, Yaseen, MD ; Al-Hadeq, Faten, BA ; Tulbah, Sahar, MS ; Shinwari, Zarghuna M.A., MS ; Almesned, Abdulrahman, MD ; Alakhfash, Ali, MD ; Al Fadly, Fadel, MD ; Hersi, Ahmed S., MD ; Alhayani, Abdullah, MD ; Al-Hashem, Amal, MD ; Arafah, Dia, MD ; Dzimiri, Nduna, PhD ; Meyer, Brian, PhD ; Rababh, Monther, BA ; Al-Manea, Waleed, MD

Heart rhythm, 2017-08, Vol.14 (8), p.1191-1199 [Periódico revisado por pares]

United States

Texto completo disponível

Citações Citado por
10
Vici syndrome associated with unilateral lung hypoplasia and myopathy
Vici syndrome associated with unilateral lung hypoplasia and myopathy
Material Type:
Artigo 		Adicionar ao Meu Espaço

Vici syndrome associated with unilateral lung hypoplasia and myopathy

Al-Owain, Mohammed ; Al-Hashem, Amal ; Al-Muhaizea, Mohammed ; Humaidan, Hani ; Al-Hindi, Hindi ; Al-Homoud, Iftetah ; Al-Mogarri, Ibrahim

American journal of medical genetics. Part A, 2010-07, Vol.152A (7), p.1849-1853 [Periódico revisado por pares]

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

Texto completo disponível

Citações Citado por
Resultados 1 2 3 4 next page

Personalize Seus Resultados

  1. Editar

Refine Search Results

Expandir Meus Resultados

  1.   

Mostrar Somente

  1. Revistas revisadas por pares (23)

Refinar Meus Resultados

Tipo de Recurso 

  1. Artigos  (25)
  2. Conjunto de Dados  (7)
  3. Videos  (1)
  4. Mais opções open sub menu

Data de Publicação 

De até
Refinar
  1. Antes de2014  (3)
  2. 2014Até2015  (4)
  3. 2016Até2017  (13)
  4. 2018Até2020  (8)
  5. Após 2020  (6)
  6. Mais opções open sub menu

  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

Buscando em bases de dados remotas. Favor aguardar.